Relevant bibliographies by topics / Cancer predisposition genes

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Academic literature on the topic 'Cancer predisposition genes'

Author: Grafiati
Published: 8 February 2024

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Journal articles on the topic "Cancer predisposition genes"

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Orozco-Hernández, Juan Pablo, Daniel Stiven Marín-Medina, Manuel A. Martínez-Muñoz, and José W. Martínez. "Breast Cancer Predisposition Genes." Salud Uninorte 34, no. 3 (February 15, 2019): 766–83. http://dx.doi.org/10.14482/sun.34.3.616.99.

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Black, D. M., F. Harris, and A. Renwick. "Breast cancer predisposition genes." European Journal of Cancer 33 (September 1997): S67. http://dx.doi.org/10.1016/s0959-8049(97)84672-2.

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Zheng, Guoqiao, Calogerina Catalano, Obul Reddy Bandapalli, Nagarajan Paramasivam, Subhayan Chattopadhyay, Matthias Schlesner, Rolf Sijmons, et al. "Cancer Predisposition Genes in Cancer-Free Families." Cancers 12, no. 10 (September 27, 2020): 2770. http://dx.doi.org/10.3390/cancers12102770.

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Familial clustering, twin concordance, and identification of high- and low-penetrance cancer predisposition variants support the idea that there are families that are at a high to moderate excess risk of cancer. To what extent there may be families that are protected from cancer is unknown. We wanted to test genetically whether cancer-free families share fewer breast, colorectal, and prostate cancer risk alleles than the population at large. We addressed this question by whole-genome sequencing (WGS) of 51 elderly cancer-free individuals whose numerous (ca. 1000) family members were found to be cancer-free (‘cancer-free families’, CFFs) based on face-to-face interviews. The average coverage of the 51 samples in the WGS was 42x. We compared cancer risk allele frequencies in cancer-free individuals with those in the general population available in public databases. The CFF members had fewer loss-of-function variants in suggested cancer predisposition genes compared to the ExAC data, and for high-risk cancer predisposition genes, no pathogenic variants were found in CFFs. For common low-penetrance breast, colorectal, and prostate cancer risk alleles, the results were not conclusive. The results suggest that, in line with twin and family studies, random environmental causes are so dominant that a clear demarcation of cancer-free populations using genetic data may not be feasible.
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Neiger, Hannah E., Emily L. Siegler, and Yihui Shi. "Breast Cancer Predisposition Genes and Synthetic Lethality." International Journal of Molecular Sciences 22, no. 11 (May 25, 2021): 5614. http://dx.doi.org/10.3390/ijms22115614.

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BRCA1 and BRCA2 are tumor suppressor genes with pivotal roles in the development of breast and ovarian cancers. These genes are essential for DNA double-strand break repair via homologous recombination (HR), which is a virtually error-free DNA repair mechanism. Following BRCA1 or BRCA2 mutations, HR is compromised, forcing cells to adopt alternative error-prone repair pathways that often result in tumorigenesis. Synthetic lethality refers to cell death caused by simultaneous perturbations of two genes while change of any one of them alone is nonlethal. Therefore, synthetic lethality can be instrumental in identifying new therapeutic targets for BRCA1/2 mutations. PARP is an established synthetic lethal partner of the BRCA genes. Its role is imperative in the single-strand break DNA repair system. Recently, Olaparib (a PARP inhibitor) was approved for treatment of BRCA1/2 breast and ovarian cancer as the first successful synthetic lethality-based therapy, showing considerable success in the development of effective targeted cancer therapeutics. Nevertheless, the possibility of drug resistance to targeted cancer therapy based on synthetic lethality necessitates the development of additional therapeutic options. This literature review addresses cancer predisposition genes, including BRCA1, BRCA2, and PALB2, synthetic lethality in the context of DNA repair machinery, as well as available treatment options.
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Garber, Judy E., and Kenneth Offit. "Hereditary Cancer Predisposition Syndromes." Journal of Clinical Oncology 23, no. 2 (January 10, 2005): 276–92. http://dx.doi.org/10.1200/jco.2005.10.042.

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Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted efforts in cancer surveillance and prevention. While these individuals comprise a small proportion of the overall burden of cancer, strategies successful in reducing their remarkable cancer risks may be generalizable to the broader population. In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided.
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Hryhorowicz, Szymon, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, Jakub Porowski, Marcin Szuman, Natalia Grot, Alicja Kryszczyńska, Jacek Paszkowski, Tomasz Banasiewicz, and Andrzej Pławski. "Strong Hereditary Predispositions to Colorectal Cancer." Genes 13, no. 12 (December 10, 2022): 2326. http://dx.doi.org/10.3390/genes13122326.

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Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, NTHL1-associated polyposis, Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir–Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm.
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Hu, Chunling, Holly LaDuca, Hermela Shimelis, Eric C. Polley, Jenna Lilyquist, Steven N. Hart, Jie Na, et al. "Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes." JCO Precision Oncology, no. 2 (November 2018): 1–28. http://dx.doi.org/10.1200/po.17.00291.

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Purpose The relevance of inherited pathogenic mutations in cancer predisposition genes in pancreatic cancer is not well understood. We aimed to assess the characteristics of patients with pancreatic cancer referred for hereditary cancer genetic testing and to estimate the risk of pancreatic cancer associated with mutations in panel-based cancer predisposition genes in this high-risk population. Methods Patients with pancreatic cancer (N = 1,652) were identified from a 140,000-patient cohort undergoing multigene panel testing of predisposition genes between March 2012 and June 2016. Gene-level mutation frequencies relative to Exome Aggregation Consortium and Genome Aggregation Database reference controls were assessed. Results The frequency of germline cancer predisposition gene mutations among patients with pancreatic cancer was 20.73%. Mutations in ATM, BRCA2, CDKN2A, MSH2, MSH6, PALB2, and TP53 were associated with high pancreatic cancer risk (odds ratio, > 5), and mutations in BRCA1 were associated with moderate risk (odds ratio, > 2). In a logistic regression model adjusted for age at diagnosis and family history of cancer, ATM and BRCA2 mutations were associated with personal history of breast or pancreatic cancer, whereas PALB2 mutations were associated with family history of breast or pancreatic cancer. Conclusion These findings provide insight into the spectrum of mutations expected in patients with pancreatic cancer referred for cancer predisposition testing. Mutations in eight genes confer high or moderate risk of pancreatic cancer and may prove useful for risk assessment for pancreatic and other cancers. Family and personal histories of breast cancer are strong predictors of germline mutations.
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Pietragalla, Antonella, Martina Arcieri, Claudia Marchetti, Giovanni Scambia, and Anna Fagotti. "Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes." International Journal of Gynecologic Cancer 30, no. 11 (September 6, 2020): 1803–10. http://dx.doi.org/10.1136/ijgc-2020-001556.

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Several genes associated with hereditary ovarian cancer have been discovered as a result of the work done with next generation sequencing. It is estimated that approximately 23% of ovarian carcinomas have a hereditary predisposition. The most common hereditary condition is represented by germline mutations in BRCA1 or BRCA2 genes that account for 20–25% of high grade serous ovarian cancer. A number of other hereditary ovarian cancers are associated with different genes, with a crucial role in the DNA damage response pathway, such as the mismatch repair genes in Lynch syndrome, TP53 in Li-Fraumeni syndrome, STK11 in Peutz-Jeghers syndrome, CHEK2, RAD51, BRIP1, and PALB2. The goal of this manuscript is to summarize the published data regarding the molecular pathways involved in the pathogenesis of non-BRCA related hereditary ovarian cancer and to provide a tool that might be useful in discussing risk assessment, genetic testing, prevention strategies, as well as clinical and therapeutic implications for patients with ovarian cancer.
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Deng, Joseph, Burak Altintas, Jeremy Haley, Jung Kim, David J. Carey, Douglas R. Stewart, and Lisa J. McReynolds. "Investigation of cancer predisposition in Fanconi anemia heterozygotes: A DiscovEHR cohort population study." Journal of Clinical Oncology 41, no. 16_suppl (June 1, 2023): 10589. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.10589.

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10589 Background: Fanconi anemia (FA) is a cancer predisposition syndrome caused by biallelic pathogenic variants in one of 22 genes involved in DNA intrastrand crosslink repair. 20 of these genes have an autosomal recessive inheritance pattern. Of the FA genes, 5 ( BRCA1, BRCA2, BRIP1, PALB2, RAD51C) are known cancer predisposition genes (CPG) when inherited in monoallelic autosomal dominant manner, though the heterozygous predisposition status of the remaining 15 remains unclear. Large population-level exome sequencing projects with linked health records such as the DiscovEHR cohort serve as promising tools to establish sufficient power to investigate all FA genes. Quantifying cancer risk is important for the counseling and surveillance of FA heterozygotes, especially with the ever-increasing use of genetic testing identifying these individuals. Methods: 170,503 individuals enrolled in the DiscovEHR Cohort were analyzed for pathogenic/likely pathogenic variants in 22 FA genes and identified 5834 subjects, the case group. ICD10 phenotype classifications for these subjects were curated to Phecodes and ICD-O-3 Site Recodes for two control arms of analysis. The first control arm included all DiscovEHR subjects excluding the case group and those with a variant of uncertain significance in the genes of interest with a deleterious in-silico score. The second control arm included individuals from the Surveillance, Epidemiology, and End Results (SEER) database. Phecode analysis yielded odds ratios adjusted for age, sex, race, smoking status, and BMI. SEER analysis yielded Standardized Incidence Ratio scores adjusted for age, sex, and birth cohort. When both arms of the analysis were completed Phecodes and SEER analyses were matched and positive signals for cancer risk were defined by statistically significant ratios in both. Results: The 5 known CPGs demonstrated multiple signals for cancer predisposition as expected (p < 0.0001). Results for FANCA (p = 0.4231) and FANCC (p = 0.8142) heterozygotes validated recent results from our group showing no increased risk of cancer in relatives of FA patients with these genotypes. Ten other FA genes also showed no increased risk of cancer. 3 genes suggested a possible increased risk of specific cancers in heterozygotes and are currently being evaluated in a second large population exome cohort to validate these findings. Conclusions: This is the largest study to date on the cancer predisposition risk in Fanconi anemia heterozygotes. We have confirmed the known risk in 5 well-described CPGs and the lack of risk amongst FANCA and FANCC heterozygotes, the most common in population. Further analysis via an additional large population cohort is underway to validate any possible novel cancer predispositions in 3 genes. For the remaining FA genes, this population analysis supports previous literature on known CPGs and the lack of cancer predisposition in most FA genes.
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Štellmachová, Júlia, Petr Vrtěl, Radek Vrtěl, Mária Janíková, Kristýna Kolaříková, Martin Procházka, and Radek Vodička. "Ovarian tumors and genetic predisposition." Česká gynekologie 87, no. 3 (June 27, 2022): 211–16. http://dx.doi.org/10.48095/cccg2022211.

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Objective: Summary of knowledge in the field of ovarian cancer and genetic predisposition. Results: Ovarian tumors are usually diagnosed at advanced stages of the disease and the prognosis for these patients is generally poor. The 5-year overall survival rate, regardless of the histopathological type of tumor, is around 44%. Germline mutations causing hereditary tumor syndromes are predominantly involved in the development of epithelial ovarian tumors. The most common is hereditary breast and ovarian cancer syndrome, which is caused by germline mutations in the tumor suppressor genes BRCA1 and BRCA2. Several other tumor suppressor genes and oncogenes are known to be associated with ovarian tumors and cause other types of tumor syndromes. Inherited tumor syndromes include Lynch syndrome, Peutz-Jegers syndrome, Gorlin syndrome, Li-Fraumeni syndrome and others. The indication for genetic examination of germline mutations is given by a clinical geneticist on the basis of the recommendation of the attending physician. At present, every ovarian tumor, primary peritoneal tumor and tube tumor diagnosed at any age is indicated for genetic testing. Conclusion: Early identification of genes for hereditary cancer syndromes, thanks to rapidly developing molecular genetic methods, is an important step towards personalized treatment of ovarian cancer and preventive measures in families at risk. It is also important to note that a negative molecular genetic test result does not exclude genetic risk. Key words: ovarian cancer – germinal variant – hereditary tumor syndrome – molecular-genetic examination – prevention – familial mutations – genetic risks
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Dissertations / Theses on the topic "Cancer predisposition genes"

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Sylvester, Dianne. "Genes underpinning predisposition to childhood cancer." Thesis, The University of Sydney, 2020. https://hdl.handle.net/2123/22458.

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The genetic changes underpinning cancer predisposition in children are not clearly defined and warrant further research, as identification of a genetic contribution to a patient’s disease can be beneficial for patients and their families. With technological advances, it is now possible to discover a broad spectrum of genetic changes implicated in cancer predisposition by sequencing the genome. An analytical review of six publications utilising germline genome sequencing in paediatric oncology found that these studies differed in the selected childhood cancer diagnoses and the genes considered for interpretation, resulting in differences in the proportions of childhood cancer patients that were reported to carry clinically relevant pathogenic germline variants. In this study, childhood cancer patients that presented with phenotypes indicative of a genetic susceptibility to cancer, such as multiple cancer diagnoses, a family history of cancer and/or a genetic diagnosis, underwent germline exome sequencing. Sequencing data were analysed for rare germline variants in over 1000 cancer predisposition, cancer associated and DNA repair genes, that were predicted to cause a loss of function or to be deleterious. Almost one quarter of childhood cancer patients with features suggestive of a genetic predisposition to cancer were found to carry pathogenic or likely pathogenic germline variant/s in 12 known cancer predisposition genes. A rare variant burden analysis of 31 autosomal dominant cancer predisposition genes found that deleterious germline variants were significantly enriched in a cohort of 63 childhood cancer patients compared to a cohort of 1107 genetically matched healthy aged controls. Novel germline variants not previously associated with cancer predisposition were also detected in 10 genes in 16 childhood cancer patients. This study has expanded our understanding of cancer predisposition in children, by discovering the diagnostic potential of sequencing patients with defined phenotypic features, and by linking pathogenic or likely pathogenic germline variants in known predisposition genes with new cancer diagnoses. Ultimately, by combining the analysis of family pedigrees with functional gene studies and data-sharing, the significance of novel germline variants associated with the onset of cancer in childhood will be established. As more childhood cancer predisposition genes are identified and characterised, screening processes may be more routinely incorporated into paediatric clinical care.
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Rapakko, K. (Katrin). "Hereditary predisposition to breast cancer—evaluation of candidate genes." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514284502.

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Abstract In Western countries, breast and ovarian cancer are among the most frequent malignancies affecting women. Approximately 5–10% of the cases in the general population have been suggested to be attributed to inherited disease susceptibility. BRCA1 and BRCA2 are the main genes associated with predisposition to breast and ovarian cancer. Mutations in these two genes explain a major part of the families displaying a large number of early-onset breast and/or ovarian cancers, but at least one third of the cases appear to be influenced by other, as yet unidentified genes. Therefore, it is likely that defects in other cancer predisposing genes, perhaps associated with lower disease penetrance and action in a polygenic context, will also be discovered. In the present study, the contribution of germline mutations in putative breast and/or ovarian cancer susceptibility genes, based on their biological function, has been investigated in Finnish breast cancer families. The role of large genomic deletions or other rearrangements in the BRCA1 and BRCA2 genes was evaluated by Southern blot analysis, and mutation analysis of TP53, RAD51, the BRC repeats of BRCA2, and 53BP1 was performed by conformation sensitive gel electrophoresis and DNA sequencing. Germline TP53 mutations were searched for in 108 Finnish breast cancer families without BRCA1 or BRCA2 alterations. In this study, the pathogenic TP53 germline mutation, Arg248Gln, was identified in only one family. This family showed a strong family history of breast cancer and other cancers also fulfilling the criteria for Li-Fraumeni-like syndrome. Germline TP53 mutations are expected to be found in cancer families with clinical features seen in Li-Fraumeni or Li-Fraumeni-like syndromes. In this study, large deletions in BRCA1 and BRCA2 were not observed in 82 breast and/or ovarian cancer families. Likewise, no disease-related aberrations were detected in RAD51, the BRC repeats of BRCA2 or 53BP1 in the 126 breast and/or ovarian cancer families studied. The obtained results were validated by comparing to the occurrence in 288–300 female cancer-free control individuals. These results do not support the hypothesis that alterations in these particular genomic regions play a significant role in breast cancer predisposition in Finland. Thus, there are still genes to be discovered to explain the molecular background of breast cancer.
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Jegundo, Patrícia Alexandra Sousa. "Antioxidant and detoxify genes polymorphisms in colorectal cancer predisposition." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/15947.

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Mestrado em Biologia Molecular e Celular
Colorectal cancer (CRC) results from histologic and gene alterations can lead to a massive cellular proliferation. Most of the authors assume multifactorial causes to CRC genesis. Low physical activity, a fat diet poor in fibers and smoking habits seems to have an important role in CRC. However, there are also genetic causes associated with CRC risk. It has been described that oxidative stress levels could influence CRC development. Thus, cellular balance reactive species and defense enzymes involved in oxidative stress are crucial to maintain a good tissue function and avoid neoplasic process. Therefore, genome variations on these defense enzymes, such as MNSOD, SOD3, GSTP1, GSTT1 and GSTM1, could be important biomarkers to colorectal adenocarcinomas. We intend to determine frequencies distribution of most common polymorphisms involved on oxidative stress regulation (MNSOD, SOD3, GSTP1, GSTT1 and GSTM1) in patients with sporadic colorectal adenocarcinoma (SCA) and in healthy controls, evaluation their possible correlation with SCA risk. Samples common polymorphisms of antioxidant and detoxify genes (MNSOD T175C, SOD3 R213G, GSTP1 A105G, GSTP1 C114T, GSTT1del and GSTM1del) analysis was done by PCR-SSP techniques. In this study we found a higher prevalence of MNSOD 175CC (55% vs 2%; p<0.0001; OR: 58.5; CI 13.3 to 256.7), SOD3 213GG (31% vs 2%; p<0.0001; OR: 21.89; CI 4.93 to 97.29), GSTP1 105GG (46% vs 12%; p<0.0001; OR: 6.14; CI 2.85 to 13.26), GSTP1 114TT (38% vs 0%; p<0.0001; OR: Infinity) and GSTT1 null (75% vs 28%; p<0.0001; OR: 7.71; CI 3.83 to 15.56) mutated genotypes among SCA patients, while the normal genotypes were associated with SCA absence. Furthermore, we found GSTP1 114TT mutated genotype (52% vs 27%; p=0.003; OR: 2.88; CI: 1.41 to 5.89) and GSTT1 null genotype (87% vs 65%; p=0.003; OR: 3.66; CI 1.51 to 8.84) associated with colon samples. These findings suggest a positive association between most of common polymorphisms involved on oxidative stress regulation and SCA prevalence. Dysregulation of MNSOD, SOD3, GSTP1, GSTT1 and GSTM1 genes could be associated with an increase of ROS in colon and rectum tissue and p53 pathway deregulation, induced by oxidative stress on colonic and rectal cells. The present study also provides preliminary evidence that MNSOD 175C, SOD3 213G, GSTP1 105G, GSTP1 114T and GSTT1 null polymorphisms, may be involved in SCA risk and could be useful to clarify this multifactorial disorder.
O cancro colo-retal (CCR) resulta de um conjunto gradual de alterações histológicas e genéticas, que se traduz numa proliferação celular descontrolada. Embora existam causas genéticas para a origem deste carcinoma, a maioria dos autores assume causas multifactoriais para a génese do CCR. Das causas não genéticas, a baixa atividade física, uma dieta rica em gorduras e pobre em fibras, bem como, os hábitos tabágicos parecem ter um papel preponderante no desenvolvimento desta patologia. Do mesmo modo, tem vindo a ser descrito que diferentes níveis de stresse oxidativo podem influenciar o desenvolvimento deste tipo de cancro. Desta forma, a manutenção celular do estado oxidação-redução parece ser crucial para a conservação da função dos tecidos e prevenção da carcinogénese. Variações genotípicas nos genes envolvidos neste processo, tais como, MNSOD, SOD3, GSTP1, GSTT1 e GSTM1, podem ser importantes biomarcadores para o CCR. Neste trabalho pretendeu-se determinar a distribuição da frequência dos polimorfismos mais comuns dos genes envolvidos na regulação do stresse oxidativo (MNSOD, SOD3, GSTP1, GSTT1 e GSTM1) em indivíduos com adenocarcinoma colo-retal esporádico (ACE) e em controlos saudáveis, avaliando assim a sua possível correlação com o risco para o desenvolvimento do ACE. A análise dos polimorfismos dos genes com atividade desintoxicante e desintoxicante (MNSOD T175C, SOD3 R213G, GSTP1 A105G, GSTP1 C114T, GSTT1del e GSTM1del) foi feita através da técnica de PCR-SSP. Neste estudo encontrámos uma prevalência dos genes mutados nos pacientes com ACE, comparativamente com o grupo controlo: MNSOD 175CC (55% vs 2%; p<0,0001; OR: 58,5; CI 13,3 a 256,7), SOD3 213GG (31% vs 2%; p<0,0001; OR: 21,89; CI 4,93 a 97,29), GSTP1 105GG (46% vs 12%; p<0,0001; OR: 6,14; CI 2,85 a 13,26), GSTP1 114TT 38% vs 0%; p<0,0001; OR: Infinito) e GSTT1 del (75% vs 28%; p<0,0001; OR: 7,71; CI 3,83 a 15,56). Além disto, observámos também que os genótipos mutados GSTP1 114TT (52% vs 27%; p=0,003; OR: 2,88; CI: 1,41 a 5,89) e GSTT1 del (87% vs 65%; p=0.003; OR: 3.66; CI 1.51 a 8.84) estavam associados com o colon. Deste modo, os nossos resultados sugerem uma associação positiva entre os polimorfismos dos genes estudados e a prevalência do ACE. Assim sendo, a desregulação dos genes MNSOD, SOD3, GSTP1, GSTT1 e GSTM1 pode ser associada com um aumento de ROS no tecido do colon-retal. Além disto, o stresse oxidativo nas células do tecido colon-retal pode também induzir uma desregulação da via da p53. Este estudo evidência assim que os polimorfismos MNSOD 175C, SOD3 213G, GSTP1 105G, GSTP1 114T e GSTT1 del poderão estar envolvidos no risco para o ACE, permitindo clarificar esta patologia multifactorial.
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Solyom, S. (Szilvia). "BRCA/Fanconi anemia pathway genes in hereditary predisposition to breast cancer." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294099.

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Abstract Two major genes are involved in hereditary predisposition to breast and ovarian cancer – BRCA1 and BRCA2. However, germline mutations in these tumor suppressors account for a maximum 20% of the familial breast cancer cases. A significant portion of the genes predisposing to this disease is unknown and therefore needs to be discovered. The aim of this study was to identify novel breast cancer susceptibility genes from the interweaving BRCA/Fanconi anemia (FA) pathway. Five candidate genes – MERIT40, ABRAXAS, BRIP1, CHK1, and FANCA – were screened for mutations by utilizing conformation-sensitive gel electrophoresis and sequencing, or with multiplex ligation-dependent probe amplification in blood DNA samples of Finnish familial breast cancer patients. Investigation of the MERIT40 gene revealed novel nucleotide changes, being the first report on mutation screening of this gene. None of the observed alterations, however, appeared to be disease related, suggesting that germline mutations in MERIT40 are rare or absent in breast cancer patients. A missense alteration (c.1082G>A, leading to Arg361Gln) was identified in ABRAXAS in 3 out of 125 Northern Finnish breast cancer families (2.4%), but not in any of the 867 healthy controls. The prevalence of the mutation between familial and control cases was statistically significantly different (p=0.002). ABRAXAS c.1082G>A appears to have pathological significance based on its exclusive occurrence in cancer cases, evolutionary conservation, disruption of a putative nuclear localization signal, reduced nuclear localization of the protein, and defective accumulation at DNA damage sites. The BRIP1 (FANCJ) and CHK1 genes were screened for large genomic rearrangements, but no abnormalities were detected, ruling out a significant contribution to breast cancer susceptibility in the Northern Finnish population. A novel large heterozygous deletion was identified in the FANCA gene in one out of 100 breast cancer families, removing the promoter and the first 12 exons. The deletion allele was not present in the tested controls, suggesting that it might contribute to breast cancer susceptibility. This is the first report on the association of a large-size germline deletion in a gene acting in the upstream part of the FA signaling pathway with familial breast cancer
Tiivistelmä BRCA1 ja BRCA2 ovat kaksi tärkeintä perinnöllisen rinta- ja munasarjasyövän alttiusgeeniä. Niissä esiintyvät ituradan muutokset selittävät kuitenkin vain noin 20 % familiaalisista rintasyöpätapauksista. Suurin osa alttiusgeeneistä on edelleen tunnistamatta ja näitä tekijöitä etsitään aktiivisesti. Tämän tutkimuksen tarkoituksena on ollut tunnistaa uusia alttiustekijöitä toisiinsa läheisesti liittyviltä BRCA/Fanconin anemia (FA) signaalinsiirtoreiteiltä. Viisi kandidaattigeeniä - MERIT40, ABRAXAS, BRIP1, CHK1 ja FANCA – kartoitettiin mutaatioiden suhteen suomalaisissa rintasyöpäperheissä käyttämällä konformaatiosensitiivistä geelielektroforeesia ja sekvensointia, tai multiplex ligation-dependent probe amplification- menetelmää. MERIT40-geenissä havaittiin useita aikaisemmin raportoimattomia nukleotidimuutoksia, mutta yhdenkään niistä ei havaittu liittyvän rintasyöpäalttiuteen. MERIT40-geenimuutosten mahdollista yhteyttä rintasyöpäalttiuteen ei ole tutkittu aikaisemmin. ABRAXAS-geenissä havaittiin missense-mutaatio (c.1082G>A, joka johtaa Arg361Gln aminohappokorvautumiseen) kolmessa pohjoissuomalaisessa rintasyöpäperheessä (3/125, 2.4 %). Muutosta ei havaittu terveissä kontrolleissa (N=867), ja ero mutaation esiintyvyydessä familiaalisten rintasyöpätapausten ja terveiden kontrollien välillä oli tilastollisesti merkitsevä (p=0.002). ABRAXAS c.1082G>A-muutos on todennäköisesti patogeeninen, sillä kyseinen aminohappopaikka on evolutiivisesti konservoitunut ja sijaitsee todennäköisellä tumaanohjaussignaalialueella. Funktionaaliset kokeet osoittivat, että mutatoitunut proteiinituote lokalisoitui villityypin proteiinia heikommin tumaan ja sen ohjautuminen DNA-vaurioalueille oli puutteellista. BRIP1- (FANCJ) ja CHK1-geeneistä etsittiin laajoja genomisia uudelleenjärjestelyjä, mutta niitä ei havaittu. Näin ollen kyseisillä muutoksilla ei ole merkittävää roolia perinnöllisessä rintasyöpäalttiudessa suomalaisessa väestössä. FANCA-geenissä havaittiin laaja heterotsygoottinen deleetio yhdessä tutkitusta 100 rintasyöpäperheestä. Deleetio poistaa geenin promoottorialueen lisäksi sen 12 ensimmäistä eksonia. Deleetioalleelia ei havaittu terveissä kontrolleissa, joten se mahdollisesti liittyy perinnölliseen rintasyöpäalttiuteen. Tutkimus on ensimmäinen, jossa raportoidaan laaja genominen deleetio FA-signaalinsiirtoreitin ylävirran geenissä familiaalisessa rintasyövässä
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Nikkilä, J. (Jenni). "PALB2 and RAP80 genes in hereditary breast cancer predisposition." Doctoral thesis, Oulun yliopisto, 2013. http://urn.fi/urn:isbn:9789526200446.

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Abstract Around 5–10% of all breast cancers stem from a strong hereditary predisposition to the disease. Mutations in currently known breast cancer predisposing genes, however, account for only 25–30% of all hereditary breast cancer cases, BRCA1 and BRCA2 being the two major ones. Since BRCA1 and BRCA2 participate in the DNA damage response, mutations in other genes, such as PALB2 and RAP80, which are involved in these pathways, may also predispose to breast tumours. Therefore, the aim of this study was to evaluate variations of the human PALB2 and RAP80 genes as novel potential candidates for breast cancer susceptibility and to further characterize the role of PALB2-deficiency in cancer development. A mutation, c.1592delT, was identified in PALB2 at an elevated frequency among breast cancer patients (0.9%) compared to controls (0.2%) (P =  0.003, OR 3.94, 95% CI 1.5–12.1). Among familial cases the frequency was even higher (2.7%). This mutation represents a genuine loss-of-function mutation since its protein product showed significantly decreased BRCA2-binding affinity and could neither support homologous recombination nor restore crosslink repair in PALB2-deficient cells. Heterozygous PALB2 c.1592delT carriers displayed haploinsufficiency of PALB2 marked by aberrant DNA replication and DNA damage response that led to a significant increase in genomic instability. As the tumours were negative for loss of heterozygosity at this chromosomal locus, these findings provide a mechanism for the early stages of breast cancer development in PALB2 c.1592delT carriers. Palb2 was also found to play a critical role in early mouse development. As in Brca1/2-deficient embryos, homozygous inactivation of Palb2 resulted in embryonic lethality due to mesoderm differentiation and cell proliferation defects. The phenotypic similarity of Palb2 and Brca1/2-deficient mice further supports the close functional relationship shown in vitro for these proteins. A novel mutation, delE81, was identified in RAP80 in one out of 112 breast cancer families, and in one patient diagnosed with bilateral breast cancer out of 503 unselected breast cancers. The resultant delE81 protein displayed significantly reduced ubiquitin binding and double-strand break (DSB) localization. Furthermore, it impaired the recruitment of the whole BRCA1-A complex to the site of DSBs, thus compromising BRCA1-mediated DNA damage response signalling. Although the mutation is quite rare, the current results indicate that the RAP80 delE81 defect is biologically relevant and is likely associated with a hereditary predisposition to breast cancer
Tiivistelmä Arviolta 5–10 % rintasyöpätapauksista aiheutuuu merkittävästä perinnöllisestä alttiudesta sairauteen. Mutaatiot tähän mennessä tunnistetuissa rintasyövän alttiusgeeneissä, joista BRCA1 ja BRCA2 ovat tärkeimmät, selittävät kuitenkin vain 25–30 % kaikista perinnöllisistä rintasyöpätapauksista. Tämän tutkimuksen tarkoituksena on arvioida PALB2- ja RAP80-geenien mahdolliset vaikutukset rintasyöpäalttiuteen, sekä määrittää tarkemmin PALB2:n vaikutus syövän kehitykseen. PALB2:sta löydettiin mutaatio, c.1592delT, jota esiintyi merkittävästi enemmän rintasyöpäpotilailla (0,9 %) kuin kontrollihenkilöillä (0,2 %) [P =  0.003, OR 3.94, 95 % CI 1.5–12.1]. Kaikista yleisimmin geenimuutos esiintyi perinnöllisten ritasyöpätapausten joukossa (2,7 %). Mutaatio aiheuttaa toiminnallisesti viallisen proteiinin, joka sitoutuu BRCA2:n kanssa normaalia heikommin, eikä se pysty kunnolla toimimaan homologisessa rekombinaatiossa tai ristikkäiden DNA-virheiden korjauksessa. Heterotsygoottisen PALB2 c.1592delT-mutaation aiheuttaa PALB2-geenin haploinsuffisienssi joka ilmentyy kantajien soluissa epänormaalina DNA:n kahdentumisena ja DNA-vauriovasteena, jotka johtavat merkittävästi kohonneeseen genomin epävakaisuuteen. Jo kyseiset toiminnalliset puutteet näyttävät tarjoavan pätevän selityksen PALB2 c.1592delT kantajien merkittävästi suurentuneelle rintasyöpäriskille ja lienee myös syy siihen, ettei potilaiden kasvaimissa havaittu normaalin vastinaleelin menetystä. Palb2:lla on keskeinen rooli hiiren alkiokehityksessä. Kuten Brca1/2-puutteellisissa alkioissa, myös homotsygoottinen Palb2-inaktivaatio aiheuttaa alkioiden enneaikaisen kuoleman, joka aiheutuu puutteista mesodermin erilaistumisessa ja hidastuneesta solujen kasvussa. Palb2- ja Brca1/2-puuttellisten hiirien samankaltaisuus vahvistaa ennestään näiden proteiinien toiminnallista yhteyttä, joka on osoitettu jo aikaisemmin laboratorio-oloissa. RAP80-geenistä löydettiin uusi mutaatio, delE81, yhdestä 112 tutkitusta rintasyöpäperheestä. Kyseinen muutos nähtiin myös yhdessä molemminpuoliseen rintasyöpään sairastaneessa potilaassa valikoimattomassa 503 tapauksen kattavasta aineistosta. Mutatoitunut proteiinituote vähensi huomattavasti DNA-vauriovastekompleksin kykyä sitoutua ubikitiiniin ja paikallistua DNA-kaksoisjuostekatkoksille. Ennen kaikkea mutaatio heikensi BRCA1-A kompleksin kuljetuksen DNA-vauriopaikalle, vaarantaen BRCA1-välitteisen DNA-vauriovasteen. Harvinaisuudesta huolimatta nämä tutkimustulokset osoittavat RAP80 delE81 vaikutuksen olevan biologisesti merkittävä. Kyseinen synnynnäinen RAP80-geenimuutos altistaa mitä todennäköisimmin kantajansa rintasyövälle
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Luo, Liping. "A genetic study on familial breast cancer predisposing genes /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-628-5184-5.

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Margolin, Sara. "Family history and breast cancer susceptibility : clinical and molecular studies /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-868-1/.

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Maguire, Paula. "Investigation of the genetic basis of familial non-BRCA1/2 breast cancer /." Stockholm, 2005. http://diss.kib.ki.se/2006/91-7140-602-6/.

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Bose, M. (Muthiah). "Molecular and functional characterization of ABRAXAS and PALB2 genes in hereditary breast cancer predisposition." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526218656.

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Abstract Hereditary mutations in DNA damage response (DDR) genes often lead to genomic instability and ultimately tumor development. However, the molecular mechanism of how these DDR deficiencies promote genomic instability and malignancy is not well understood. Thus, the specific aim of this thesis is to identify the functional and molecular framework behind the elevated breast cancer risk observed in heterozygous PALB2 and ABRAXAS mutation carriers. The heterozygous germline alteration in PALB2 (c.1592delT) causes a haploinsufficiency phenotype in the mutation carrier cells. Due to PALB2 haploinsufficiency, elevated Cdk activity and consequently aberrant DNA replication/damage response was observed in the PALB2 mutation carrier cells. Excessive origin firing that is indicative of replication stress was also seen in the PALB2 mutation carrier cells. In addition to replication stress, PALB2 mutation carrier cells also experience G2/M checkpoint maintenance defects. The increased malignancy risk in females associated with heterozygosity for the Finnish PALB2 founder mutation is likely to be due to aberrant DNA replication, elevated genomic instability and multiple different cell cycle checkpoint defects. The heterozygous germline alteration in ABRAXAS (c.1082G>A) causes a dominant-negative phenotype in the mutation carrier cells. Decreased BRCA1 protein levels as well as reduced nuclear localization and foci formation of BRCA1 and CtIP was observed in the ABRAXAS mutation carrier cells. This causes disturbances in basal BRCA1-A complex localization, which is reflected by a restraint in error-prone DNA double-strand break (DSB) repair pathway usage, attenuated DNA damage response, deregulated G2/M checkpoint control and apoptosis. Most importantly, mutation carrier cells display a change in their transcriptional profile, which we attribute to the reduced nuclear levels of BRCA1. Thus, the Finnish ABRAXAS founder mutation acts in a dominant-negative manner on BRCA1 to promote genome destabilization in the heterozygous carrier cells
Tiivistelmä Perinnölliset muutokset DNA-vauriovasteen geeneissä johtavat usein genomin epävakauteen ja lopulta syövän kehittymiseen. Molekyylitason mekanismeja, joilla vauriovasteen vajaatoiminta ajaa genomin epävakautta ja syöpää, ei kuitenkaan ymmärretä kunnolla. Tämän väitöskirjan tavoitteena on tunnistaa solutoiminnan ja molekyylitason vaikuttajat heterotsygoottisten PALB2- ja ABRAXAS-geenimuutosten kantajien kohonneen rintasyöpäriskin taustalla. Heterotsygoottinen ituradan suomalainen perustajamuutos PALB2-geenissä (c.1592delT) aiheuttaa haploinsuffisienssin kantajahenkilöiden soluissa. PALB2:n haploinsuffisienssin seurauksena kantajasoluissa havaittiin kohonnutta Cdk-proteiinin aktiivisuutta ja siitä johtuvaa kiihtynyttä DNA:n kahdentumista. PALB2-mutaatiota kantavissa soluissa nähtiin myös liiallista replikaation aloituskohtien käyttöä, mikä viittaa replikaatiostressiin. Replikaatiostressin lisäksi PALB2-mutaation kantajasoluilla havaittiin vaikeuksia ylläpitää solusyklin G2/M-tarkastuspisteen toimintaa. Näiden solutoiminnan poikkeavuuksien takia heterotsygoottisen PALB2 c.1592delT -mutaation kantajilla todettiin genomin epävakautta ja kohonnut syöpäriski. Heterotsygoottinen ituradan mutaatio ABRAXAS-geenissä (c.1082G>A) aiheuttaa dominantti-negatiivisen fenotyypin mutaation kantajasoluissa. ABRAXAS-mutaatiota kantavissa soluissa havaittiin BRCA1-proteiinitasojen laskua sekä BRCA1- ja CtIP-proteiinien vähentynyttä lokalisaatiota tumaan ja DNA-vauriopaikoille. Tämä aiheuttaa häiriöitä BRCA1-A-kompleksin paikallistumisessa, mikä johtaa häiriöihin virhealttiiden DNA-kaksoisjuoste¬katkoksien korjausmekanismien käytössä, DNA-vauriovasteessa, G2/M-tarkastus-pisteen säätelyssä ja ohjelmoidussa solukuolemassa. Tärkeimpänä löydöksenä havaittiin mutaation kantajasoluissa muuttunut transkriptioprofiili, joka johtunee BRCA1-proteiinitasojen laskusta tumassa. Näin ollen suomalainen ABRAXAS-perustajamutaatio toimii dominantti-negatiivisena BRCA1:n suhteen, aiheuttaen genomin epävakautta heterotsygoottisissa kantajasoluissa
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Fewings, Eleanor Rose. "The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/285963.

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The development of whole exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition variants and potentially provide clinical insight into disease management. There is no standard protocol for analysing exome sequencing data. Outside of extremely large sequencing studies including thousands of individuals, statistical approaches are often underpowered to detect rare disease associated variants. Aggregation of variants into functionally related regions, including genes, gene clusters, and pathways, allows for the detection of biological processes that, when interrupted, may impact disease risk. In silico functional studies can also be utilised to further understand how variants disrupt biological processes and identify genotype-phenotype relationships. This study describes the exploration of sequencing datasets from cancers and benign tumour diseases including: i) hereditary diffuse gastric cancer, ii) sweat duct proliferation tumours, iii) adrenocortical carcinoma, and iv) breast cancer. Each set underwent germline whole exome sequencing followed by additional tumour or targeted sequencing to identify associated predisposition genes. Variants within a cluster of risk genes that are involved in double strand break repair were identified as associated with hereditary diffuse gastric cancer risk via gene ontology enrichment analysis. This cluster included PALB2 within which, using externally collated data, loss of function variants were identified as significantly associated with hereditary diffuse gastric cancer risk. Germline protein-affecting variants in the myosin gene MYH9 were identified in all individuals with a rare sweat duct proliferative syndrome, suggesting a role for MYH9 in skin development, regulation and tumorigenesis. These MYH9 variants were analysed in silico to identify a genotype-phenotype relationship between the clinical presentation and variants in the ATP binding pocket of the protein. Tumour matched normal sequence data from adrenocortical carcinoma cases was used to elucidate the role of Lynch syndrome genes in disease pathogenesis. Within the breast cancer set, candidate genes were selected to undergo targeted sequencing in a larger set of cases to further explore their role in breast cancer risk. Risk associated genes identified within this study may ultimately aid in diagnosis and management of disease. This thesis has also generated multiple novel tools and sequencing analysis techniques that may be of use for further studies by aiding in the prioritisation of candidate variants. The described techniques will provide support to researchers working on rare, statistically underpowered datasets and to provide standard analysis pipelines for a range of dataset sizes and types, including familial data and unrelated individuals.
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Books on the topic "Cancer predisposition genes"

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service), Wiley InterScience (Online, ed. Hereditary tumors: From genes to clinical consequences. Weinheim: Wiley-VCH, 2009.

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Risky genes: Genetics, breast cancer, and Jewish identity. Abingdon, Oxon: Routledge, 2013.

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1945-, Ehrlich Melanie, ed. DNA alterations in cancer: Genetic and epigenetic changes. Natick, MA: Eaton Pub., 2000.

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Breast cancer genes and the gendering of knowledge: Science and citizenship in the cultural context of the "new" genetics. Basingstoke [England]: Palgrave Macmillan, 2007.

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service), SpringerLink (Online, ed. The Role of Genetics in Breast and Reproductive Cancers. New York, NY: Springer Science+Business Media, LLC, 2010.

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Frank, Steven A. Dynamics of cancer: Incidence, inheritance, and evolution. Princeton, N.J: Princeton University Press, 2007.

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GIBBON, SAHRA. Breast Cancer Genes and the Gendering of Knowledge. Palgrave Macmillan, 2006.

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GIBBON, SAHRA. Breast Cancer Genes and the Gendering of Knowledge. Palgrave Macmillan, 2007.

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Mozersky, Jessica. Risky Genes: Genetics, Breast Cancer and Jewish Identity. Taylor & Francis Group, 2012.

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Mozersky, Jessica. Risky Genes: Genetics, Breast Cancer and Jewish Identity. Taylor & Francis Group, 2014.

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Book chapters on the topic "Cancer predisposition genes"

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Patterson, Helen, and Colin Cooper. "From chromosomes to genes: how to isolate cancer-predisposition genes." In Genetic Predisposition to Cancer, 40–55. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_3.

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Mathew, Christopher G. "Screening for mutations in cancer predisposition genes." In Genetic Predisposition to Cancer, 372–82. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_26.

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Evans, Gareth, and Rodney Harris. "The ethics of testing for cancer-predisposition genes." In Genetic Predisposition to Cancer, 383–93. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_27.

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Easton, Douglas F. "From families to chromosomes: genetic linkage, and other methods for finding cancer-predisposition genes." In Genetic Predisposition to Cancer, 16–39. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_2.

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Copeland, N. G., and N. A. Jenkins. "Myeloid Leukemia: Disease Genes and Mouse Models." In Animal Models of Cancer Predisposition Syndromes, 53–63. Basel: KARGER, 1999. http://dx.doi.org/10.1159/000062003.

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Malone, Kathleen E., and Kerryn W. Reding. "Inherited Predisposition: Familial Aggregation and High Risk Genes." In Breast Cancer Epidemiology, 277–99. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-0685-4_13.

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Reichardt, Juergen K. V., and Ann W. Hsing. "Androgen-Metabolic Genes in Prostate Cancer Predisposition and Progression." In Androgen Action in Prostate Cancer, 141–54. New York, NY: Springer US, 2009. http://dx.doi.org/10.1007/978-0-387-69179-4_6.

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Moriwaki, K., N. Miyashita, Y. Yamaguchi, and T. Shiroishi. "Multiple Genes Governing Biological Functions in the Genetic Backgrounds of Laboratory Mice and Asian Wild Mice." In Animal Models of Cancer Predisposition Syndromes, 1–12. Basel: KARGER, 1999. http://dx.doi.org/10.1159/000062001.

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Tedaldi, Gianluca, Celina São José, and Carla Oliveira. "Other Syndromes and Genes Associated with Gastric Cancer Predisposition." In Hereditary Gastric and Breast Cancer Syndrome, 99–116. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-21317-5_7.

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Noushmehr, Houtan, Simon G. Coetzee, Suhn K. Rhie, Chunli Yan, and Gerhard A. Coetzee. "The Functionality of Prostate Cancer Predisposition Risk Regions Is Revealed by AR Enhancers." In Androgen-Responsive Genes in Prostate Cancer, 59–84. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6182-1_5.

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Conference papers on the topic "Cancer predisposition genes"

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Paixão, Daniele, Giovana Tardin Torrezan, Karina Miranda Santiago, Maria Nirvana Formiga, Emmanuel Dias Neto, Israel Tojal da Silva, Paz Polak, and Dirce Maria Carraro. "MULTIGENE PANEL TESTING FOR BREAST CANCER PREDISPOSITION IN BRAZILIAN PATIENTS." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2016.

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Objective: Only 5–10% of breast cancer (BC) is related to inherited genetic variants, and BRCA1 and BRCA2 mutations are responsible for the majority of cases. BRCA1 is more associated with triple-negative and BRCA2 to the luminal subtype. The contribution of other genes of high and moderate risk for BC, such as TP53, STK11, CDH1, PTEN, ATM, CHEK2, and PALB2, are not well defined, and risk estimates to specific BC subtype are lacking, especially for an admixed population like Brazilian. The aim of this study was to evaluate the contribution of the multigene panel in detecting germline mutations in Brazilian BC patients and their relationship with molecular subtypes and predominant ancestry. Methods: A 94-gene panel was performed on 321 patients with BC fulfilling NCCN criteria who were referred for BRCA1/2 testing between August 2016 and May 2018. Molecular subtypes were retrieved from medical records, and ancestry-specific variants were obtained from the sequencing data. Results: A panel analysis of 321 patients resulted in a total of 83 pathogenic/likely pathogenic (P/LP) variants identified in 81 patients, leading to a positivity rate of 25%. Of the total P/LP variants, 47% were identified in high-risk BC genes (BRCA1/2, PALB2, and TP53) and 17% in moderate-penetrance genes (ATM and CHEK2). The remainders of the variants were identified in low-risk genes and were considered unexpected findings. Variants of uncertain significance were identified in 77.6% of the patients. Regarding the molecular subtype, triple-negative BC had a mutation frequency of 32% (25/79), with predominance in BRCA1 (40%). Among the luminal subtype, 19% (29/155) had P/LP variants, with BRCA1/2 genes contributing to 38% of mutated cases. For the Luminal B HER2-positive subtype, 40% (16/40) had P/LP variants, with a predominance of the ATM gene (37%). Finally, the HER2-enriched subtype presented a mutation rate of 31% (4/13; 1 BRCA2 and 3 non-BRCA1/2). We did not detect any association of ancestry with P/LP variants or molecular subtypes. Conclusion: The multigene panel contributed to identify P/LP variants in other actionable genes besides BRCA1/2, increasing 7.2% of the positivity of the genetic test. Additionally, our results highlight the distinct contributions of BC genes in each molecular subtype. These results indicate that women with clinical criteria for hereditary BC may benefit from multigene panel testing as it allows them to identify P/LP variants in other BC susceptibility genes, including actionable genes, which directly impact the clinical management of these patients and family members.
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Couch, FJ, H. Shimelis, H. LaDuca, C. Hu, SN Hart, EC Polley, T. Pesaran, B. Tippin-Davis, DE Goldgar, and JS Dolinsky. "Abstract PD1-01: Triple negative breast cancer predisposition genes." In Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-pd1-01.

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Chiang, Yu-Cheh, Ting-Fang Lee, Yung-Feng Lin, Hui-Ying Weng, Shih-Feng Tsai, and Cheng-Wen Wu. "Abstract 4168: Identify the predisposition genes to endometrial cancer." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-4168.

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Chiang, Yu-Cheh, Ting-Fang Lee, Yung-Feng Lin, Hui-Ying Weng, Shih-Feng Tsai, and Cheng-Wen Wu. "Abstract 4168: Identify the predisposition genes to endometrial cancer." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-4168.

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Couch, FJ. "Abstract OI-1: OI-1 Decoding breast cancer predisposition genes." In Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-oi-1.

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Brianese, Rafael Canfield, Karina Miranda Santiago, Giovana Tardin Torrezan, Marina de Brot, José Claudio Casali da Rocha, Fabiana Baroni Alves Makdissi, and Dirce Maria Carraro. "MULTIGENE GERMLINE NGS TESTING IN TRIPLENEGATIVE BREAST CANCER (TNBC)." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2006.

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Objective: Triple-negative breast cancer (TNBC) is a breast cancer subtype strongly associated with BRCA1 germline mutations that are involved in homologous recombination DNA repair deficiency (HRD). Tumors with HRD may benefit from DNA-damage-inducing agents and PARP inhibitors. We aim to characterize germline mutations in HRD-related genes in TNBC and associate them with clinical data. Methods: TNBC patients (n=117) attending the A.C.Camargo Cancer Center had genetic testing performed by NGS (26–127 cancer predisposition gene panels) in leukocyte/saliva DNA. When possible, germline variants were screened in tumor DNA for loss-of-heterozygosity (LOH). Results: All patients were screened for germline variants: 26% (30/117) were Hereditary HRR-related, 21% BRCA1, 2% BRCA2, 2% PALB2, and 1% RAD51. For women diagnosed at a young age (<40 years), this rate increases to 38% (20/52), 31% BRCA1, 4% BRCA2, 2% PALB2, and 1% RAD51. In addition, 37% of cases presented variants of uncertain significance (VUS). LOH analysis showed that 100% (6/6) of pathogenic variants had LOH, while only 30% of VUS had LOH. Interestingly, for two cases with concurrent pathogenic and VUS, only the pathogenic variant exhibits LOH. Additionally, 47% (7/15) of the VUS with LOH were in HRR-related genes. Conclusion: The majority of germline variants in TNBC are in the BRCA1 gene, but other HRR-related genes also contribute to HRD. LOH analysis may help classify VUS regarding pathogenicity.
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Carvalho, Débora Medeiros de, Josielly Ferreira Bacelar, Joarla Ayres de Morais Estevão, Carlos Eduardo Moura de Lima, Josie Haydée Lima Ferreira Paranaguá, Emanuelle de Lima Barros, Isadora Patrícia Porfírio Franco de Andrade, and Sabas Carlos Vieira. "Two pathogenic variants in a patient with cervical and breast cancer: Case report." In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1054.

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Introduction: The presence of two pathogenic germline variants in hereditary cancer is an uncommon event. We report a case of a Brazilian patient from Teresina, Piauí, who developed breast and cervical carcinoma with pathogenic variants in BRCA2 and MUTYH genes. Case Report: A 25-year-old female patient in 2012 underwent a radical hysterectomy with pelvic lymphadenectomy without ovarian preservation for treatment of histologic grade 2 (G2) squamous cell carcinoma (SCC) of the cervix, FIGO stage IB2. Histopathology of the surgical specimen revealed SCC, G2, stromal invasion 16 mm, 4.5 cm in diameter, compromised parametrium, 6 lymph nodes without metastasis, and normal ovaries. She received pelvic radiotherapy and brachytherapy associated with platinum-based chemotherapy. In 2017, she was diagnosed with histologic grade 1 invasive breast carcinoma of no special type in the right breast. Immunohistochemistry revealed that it was a luminal B tumor (estrogen receptor (ER)+ 90%, progesterone receptor (PR) + 80%, human epidermal growth factor (HER2) 1+, Ki-67 40%), stage IA (T1N0M0)). Neoadjuvant chemotherapy with doxorubicin and cyclophosphamide (AC, 4 cycles) followed by paclitaxel (12 cycles) was performed. The patient underwent segmental mastectomy, and sentinel lymph node research and histopathology revealed complete pathological response and negative sentinel lymph node residual cancer burden 0. She had a history of three pregnancies and three deliveries, with no case of neoplasia in the family. In 2023, multigene test for hereditary predisposition to cancer was performed, in which two pathogenic variants were detected being one in BRCA2 gene (c.8725A>T) and the other in MUTYH (c.1187G>A). Currently, there is no evidence of active disease and on schedule for colonoscopy, endoscopy, and bilateral risk-reducing mastectomy. Conclusion: In young patients with multiple cancers, a search for pathogenic variants related to hereditary cancer predisposition syndromes should be offered, as in the present case.
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Lima, Fernanda Teresa de, Madeleyne Beatriz Boado Quiroga Cardenas, Gabriela de Almeida Vasconcelos Costa, Mary Miyazawa Simomoto, Afonso Celso Pinto Nazario, Joaquim Teodoro Araujo Neto, Wagner Antonio da Rosa Baratela, and Gil Facina. "MALE BREAST CANCER ASSOCIATED WITH A LARGE DELETION IN BLM GENE – REPORT OF A CASE." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2077.

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Malignant breast neoplasm in men is rare, corresponding to less than 1% of all breast neoplasms, and 100 times less frequent than in women. It is molecularly different from female breast cancer, and germline pathogenic mutations in genes aside from BRCAs have been recently associated with an increased risk of male breast cancer. Here, we report an elderly male, 71 years old, with a malignant neoplasm in the left breast, with positive hormone receptors, HER2-negative, and Ki-67 of 25%. A modified radical mastectomy was performed, and the surgical specimen showed a micropapillary invasive mammary carcinoma, 1.9 cm, 2 of 11 lymph nodes positive, pT1cpN1acM0. He was treated with adjuvant chemotherapy and radiotherapy, followed by endocrine therapy. His mother had breast cancer at 50 years, and his smoking father died of lung cancer. During his treatment, a multigene panel was done and a heterozygous likely pathogenic large deletion involving exons 20–22 of the BLM gene was found, associated with a variant of unknown significance in the same gene; c.3427G>A; p.(Glu1143Lys). All his three daughters harbor the same mutation. The risk of breast cancer in association with a heterozygous pathogenic variant in the BLM gene is still controversial because of its ability to cause tumors when not associated with polymorphisms in other homologous recombination genes, which poses a challenge for genetic counseling, surveillance, and management. This report aims to add data and clinical evidence to the attempts to elucidate the role of BLM germline variants in breast cancer predisposition.
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McKay, Skye, Jeremy Humphris, Amber Johns, Mark Pinese, Ann-Marie Patch, Katia Nones, Sean Grimmond, Andrew Biankin, and Nicola Waddell. "Abstract A02: Assessment of germline cancer predisposition genes in 392 unselected pancreatic cancer patients." In Abstracts: AACR Special Conference on Pancreatic Cancer: Advances in Science and Clinical Care; May 12-15, 2016; Orlando, FL. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.panca16-a02.

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Lacerda, Elisângela de Paula Silveira, Rebeca Mota Goveia, Paula Francinete Faustino Silva, Thais Bonfim Teixeira, and Ruffo de Freitas-Junior. "HEREDITARY BREAST AND OVARIAN CANCER PATIENTS HAVE A FAMILY HISTORY OF CANCER OUTSIDE THE SPECTRUM OF THE SYNDROME, MIMICKING LYNCH AND LI–FRAUMENI SYNDROMES." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2030.

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Patients with pathogenic variants (PV) in the BRCA1 and BRCA2 genes have hereditary breast and ovarian cancer syndrome (HBOC). Some patients with HBOC have a family history (FH) of different types of cancer not related to the syndrome. The objective of this study was to observe the FH profile of cancer in patients with HBOC syndrome. A total of 123 patients treated at the Advanced Breast Diagnostic Center (CORA) with clinical criteria suggestive of HBOC syndrome were selected according to the National Comprehensive Cancer Network (NCCN). The collection of 4 ml of blood was performed, which was subjected to DNA extraction and PV analysis in the BRCA1 and BRCA2 genes by next generation sequencing. The data were analyzed using the Sophia DDM and Ion Reporter software. The variants were considered to be pathogenic according to the ACMG criteria. It was found that among 123 patients analyzed, 19 had HBOC syndrome, of whom 5 were related. Thus, we had 16 families with HBOC syndrome. Among the 16 families, 14 (87.5%) had FH from cancers related to HBOC syndrome, 9 (56.25%) had FH from cancers not related to HBOC syndrome, and 1 (16.25%) did not have FH cancer. A total of 8 (50%) of families with HBOC also met the NCCN criteria for other hereditary cancer syndromes, 3 (18.75%) for Li–Fraumeni syndrome (LFS) and HBOC, 3 (18.75%) for Lynch syndrome (LS) and HBOC, and 2 (12.5%) for HBOC, LFS, and LS. The most common cancers observed outside the common spectrum of HBOC syndrome in families were stomach cancer (25%), intestine (18.75%), liver (18.75%), and skin (18.75%). These data suggest the importance of a complete assessment of FH in patients with HBOC syndrome to better understand its relationship with the predisposition to different types of cancer.
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Reports on the topic "Cancer predisposition genes"

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Jia, Ziqi, Jiang Wu, Jiaxin Li, Jiaqi Liu, and Xiang Wang. Meta-analysis of breast cancer risk associated with established germline pathogenic variants in breast cancer-predisposition genes in population-based studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, February 2021. http://dx.doi.org/10.37766/inplasy2021.2.0017.

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Ozcelik, Hilmi, Hamdi Jarjanazi, and Noel Pabalan. Cloning and Characterization of Expanded CAG-Repeat Containing Sequence(s): Identification of Candidate Breast Cancer Predisposition (Gene(s). Fort Belvoir, VA: Defense Technical Information Center, June 2005. http://dx.doi.org/10.21236/ada442469.

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Ozcelik, Hilmi. Cloning and Characterization of Expanded CAG-Repeat Containing Sequence(s): Identification of Candidate Breast Cancer Predisposition Gene(s). Fort Belvoir, VA: Defense Technical Information Center, June 2004. http://dx.doi.org/10.21236/ada427658.

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