Relevant bibliographies by topics / Gene mutation/breast disease

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Academic literature on the topic 'Gene mutation/breast disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 15 February 2022

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Journal articles on the topic "Gene mutation/breast disease"

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Ahn, TaeJin, and Taesung Park. "Pathway-Driven Discovery of Rare Mutational Impact on Cancer." BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/171892.

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Identifying driver mutation is important in understanding disease mechanism and future application of custom tailored therapeutic decision. Functional analysis of mutational impact usually focuses on the gene expression level of the mutated gene itself. However, complex regulatory network may cause differential gene expression among functional neighbors of the mutated gene. We suggest a new approach for discovering rare mutations that have real impact in the context of pathway; the philosophy of our method is iteratively combining rare mutations until no more mutations can be added under the condition that the combined mutational event can statistically discriminate pathway level mRNA expression between groups with and without mutational events. Breast cancer patients with somatic mutation and mRNA expression were analyzed by our approach. Our approach is shown to sensitively capture mutations that change pathway level mRNA expression, concurrently discovering important mutations previously reported in breast cancer such as TP53, PIK3CA, and RB1. In addition, out of 15,819 genes considered in breast cancer, our approach identified mutational events of 32 genes showing pathway level mRNA expression differences.
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QAMAR, MUHAMMAD FIAZ, FARAH REHMAN, SABEEN ILYAS, and Seher Abbas. "BREAST CANCER PATIENTS;." Professional Medical Journal 20, no. 06 (December 15, 2013): 1019–25. http://dx.doi.org/10.29309/tpmj/2013.20.06.1736.

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Objective: Genetic factors contribute to the high rates with breast cancer patients. Our objective was to screen themutations in the BRCA 1 gene in exon 20. Design: A diagnostic study. Place and Duration of Study: The study was carried out inmolecular biology lab, Department of Zoology, GC University Lahore and Institute of Molecular Biology and Biotechnology (IMBB),University of Lahore over a period of one year from July 2011 to Aug 2012. Patients and Methods: To screen for mutation in the BRCA1gene, blood samples were collected from 22 different patients suffering from breast cancer from the Anmol Hospital and Sir Ganga RamHospital Lahore. The collected samples were processed to screen any mutation in exon 20 which is indicative of the fact that exon 20 isnot a hotspot for mutations. Results: In our study of 22 females, we have found no mutation in the gene. It is becoming increasingly clearthat breast cancer is a multifaceted and heterogeneous disease and histopathological characteristics of breast cancer are controlled bysubsets of genetic alterations, providing convincing hints of genotypic–phenotypic correlations between morphological patterns andmolecular changes. BRCA has emerged as the master regulator of the genome through its ability to regulate and coordinate various stepsof DNA damage response. Women who carry a mutation of the gene have greatly increased chance of developing breast cancer. Thepopulation of Pakistan has been substantially screened for somatic and germline mutations in BRCA. Conclusions: Breast cancer is themost common cancer of women in Pakistan. One every 8th women is found to carry the disease. A female may develop the diseasethrough inherited mutations in the BRCA1 gene. The absence of mutation maybe attributed to small sample size of the study or may be dueto the fact that the size of the gene is so large that a single axon may not be enough to screen for mutations.
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Arakelyan, Arsen, Ani Melkonyan, Siras Hakobyan, Uljana Boyarskih, Arman Simonyan, Lilit Nersisyan, Maria Nikoghosyan, Maxim Filipenko, and Hans Binder. "Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers." International Journal of Molecular Sciences 22, no. 3 (January 28, 2021): 1266. http://dx.doi.org/10.3390/ijms22031266.

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Mutations in the BRCA1 and BRCA2 genes are known risk factors and drivers of breast and ovarian cancers. So far, few studies have been focused on understanding the differences in transcriptome and functional landscapes associated with the disease (breast vs. ovarian cancers), gene (BRCA1 vs. BRCA2), and mutation type (germline vs. somatic). In this study, we were aimed at systemic evaluation of the association of BRCA1 and BRCA2 germline and somatic mutations with gene expression, disease clinical features, outcome, and treatment. We performed BRCA1/2 mutation centered RNA-seq data analysis of breast and ovarian cancers from the TCGA repository using transcriptome and phenotype “portrayal” with multi-layer self-organizing maps and functional annotation. The results revealed considerable differences in BRCA1- and BRCA2-dependent transcriptome landscapes in the studied cancers. Furthermore, our data indicated that somatic and germline mutations for both genes are characterized by deregulation of different biological functions and differential associations with phenotype characteristics and poly(ADP-ribose) polymerase (PARP)-inhibitor gene signatures. Overall, this study demonstrates considerable variation in transcriptomic landscapes of breast and ovarian cancers associated with the affected gene (BRCA1 vs. BRCA2), as well as the mutation type (somatic vs. germline). These results warrant further investigations with larger groups of mutation carriers aimed at refining the understanding of molecular mechanisms of breast and ovarian cancers.
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Tang, E., A. Kwong, C. Wong, F. Law, C. Wong, E. Ng, E. Ma, and J. M. Ford. "Novel de novo BRCA1 mutation in a woman with early onset breast cancer." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): e22143-e22143. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22143.

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e22143 Background: Germline mutations in BRCA1/2 account for a significant portion of hereditary breast/ovarian cancer. Mutation carriers usually have a family history of breast/ovarian cancer or early onset disease. Rarely, germline mutations are found only in the probands but not in any family members. Such de novo mutations have been reported in diseases such as hemophilia A, thalassaemia and familial adenomatous polyposis. De novo mutations in the BRCA1 or BRCA2 genes are rare and the few reported have been in BRCA2. Here, we describe de novo as well as novel mutation of the BRCA1 gene in a breast cancer patient. Methods: Blood DNA samples from a 30 year old Chinese woman with breast cancer and no family history of cancer was tested for a BRCA1/2 mutation by full gene sequencing and Multiple Ligation-dependent Probe Amplification (MLPA). Family members were analyzed for the same mutation. Paternity was determined by a set of highly polymorphic short tandem repeat (STR) markers. Results: Full gene sequencing found no deleterious mutation. MLPA revealed a large deletion of exons 1 to 12 of BRCA1 in the proband. MLPA performed on 5 family members: proband's mother and father (who were 1st degree relative- cousins), stepmother (mother's biological sister), 2 sisters (1, same parents; 1, same father and stepmother) found no similar deletion. By using a set of highly polymorphic STR markers, the proband's father and mother were confirmed to be her biological parents. Conclusions: We report a novel de novo BRCA1 deletion mutation encompassing exons 1 - 12 in a Chinese breast cancer patient of early onset with no family history. Identification of this large deletion confirms the importance of pursuing rearrangement testing if full gene sequencing fails to detect a point mutation or short insertion deletion. The mutation found in this study is de novo. This may simply be a random mutation event which occurred in the parents' germ cells during their lifetime which passed onto one of their offspring or maybe a result of gene inversion or splicing deficiency. The relations of such mutations with consanguineous marriage cannot be ruled out. Mutation screening is important in early onset breast cancer patients even if there is no family history. No significant financial relationships to disclose.
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Wisesty, U. N., T. R. Mengko, and A. Purwarianti. "Gene mutation detection for breast cancer disease: A review." IOP Conference Series: Materials Science and Engineering 830 (May 19, 2020): 032051. http://dx.doi.org/10.1088/1757-899x/830/3/032051.

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Oleksenko, Viktor, Kazim Aliev, and K. Malyy. "BRCA GENES MUTATIONS’ OF HEREDITARY BREAST CANCER IN CRIMEA." Problems in oncology 66, no. 5 (May 1, 2020): 507–13. http://dx.doi.org/10.37469/0507-3758-2020-66-5-507-513.

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Introduction. The hereditary predisposition to the growth of breast cancer (BC), associated with germline mutations of DNA genes repair (BRCA(1,2)), is characterized by a variety of polymorphism variants, with a tendency to a certain specificity in different population groups. In regions with a mixed population composition, such as Crimean Peninsula, the problem of the relationship of specific mutations and a population group is not only of scientific interest, but also has rather important practical significance from the point of view of diagnostic and prognostic criteria design for the breast cancer incidence. The aim of the study was to determine the frequency of occurrence of BRCA1 (5382insC, 4153delA, 185delAG) and BRCA2 (6174delT) genes mutations in two population groups having a breast cancer and living in the Crimea - Slavic and Crimean Tatar, with clinical signs of a hereditary disease. Materials and methods. 283 DNA samples were studied, collected from the blood of patients with clinical signs of hereditary breast cancer, of which 208 were Slavic and 75 were Crimean Tatar population group. The control group consisted of 256 DNA samples collected from the blood of healthy women, of which 196 were Slavic and 60 were Crimean Tatar population group. The study was carried out using real-time polymerase chain reaction (PCR-RT) by allelic discrimination, with the analysis of melting curves. Morphological verification of the diagnosis was carried out by a set of methods for determining the histological variant and tumor immunophenotyping according to the standard diagnostic program. Results. Mutations were detected in 23 breast cancer cases; these mutations were determined exclusively in the Slavic group. The 5382insC BRCA1 gene mutation was prevailed (21/10,1%), and 185delAG BRCA1 mutations one case and 6174delT BRCA2 mutation one case were obtained. None of the gene mutation was not registered in the Crimean Tatar population group. Immunohistochemi-cally triple negative breast cancer was determined in 86.4% of mutations cases. Only one case of mutation was recorded in the control group - 5382insC of the BRCA1 gene in the Slavic population group (0,4%). Conclusion. The frequency of occurrence of the “founder mutation” 5382insC BRCA1 gene mutation in breast cancer patients from Slavic population group corresponds to the average Russian and European levels, the frequency of other variants of the studied mutations, 185delAG BRCA1 gene and 6174delT BRCA2 gene, is recorded much less frequently, and the 4153delA mutation was not observed in the studied samples. The absence of mutations in the studied markers of the Crimean Tatars population group, including those with a hereditary predisposition to breast cancer, indicates differences in the mutation spectrum and necessitates the continuation of studies with an expansion of the mutation spectrum, with the prospect of full-genome (BRCA1) or genome-wide DNA sequencing of patients.
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Kailasam, Karthik, Mohammad Omaira, Hardik Satish Chhatrala, and Marie Ravichandar. "Prognostic implication of GATA3 gene mutation on survival in invasive ductal carcinoma of the breast." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): e13114-e13114. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e13114.

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e13114 Background: GATA3 encodes a transcription factor, which is involved in activation and suppression of genes involved in cell maturation. GATA3 is necessary in the adult mammary gland to maintain the integrity and function of the luminal epithelium. Methods: METABRIC project funded by cancer research UK, the British Columbia cancer foundation and the Canadian breast cancer foundation mapped 173 gene mutations and amplifications in 2,433 primary breast tumors. Retrospective analysis was done for patients with invasive ductal carcinoma of the breast in the age group 30-60; to study the effect of GATA3 mutation on survival. Median survival was obtained from Kaplan-Meier plot, and mortality between groups was compared by Odds ratio (OR). Results: A total of 1500 patients across all age groups had invasive ductal carcinoma. 650 were within the age group 30-60; of which 234 died due to the disease, 360 were alive and 55 died due to other causes. 398 patients (61.2%) tested positive for estrogen receptor (ER) and 521 patients (80.2%) were negative for HER2 (human epidermal growth factor receptor 2). TP53 (50%) and PIK3CA (36%) mutations were more prevalent. GATA3 mutation was found in 79 patients (12.34%); among which, all 79 patients tested positive for ER (100%) and 74 patients (94.9%) negative for HER2. 10 patients (12.7%) died due to the disease, 62 patients (78.5%) were alive and 7 patients (8.9%) died due to other causes. Hence, patients with GATA3 mutations were more likely to survive (OR 4.66; CI 2.33-9.29 p < 0.0001) than patients without the mutation. The median survival for patients with GATA3 mutation (300 months) was also greater than patients without the mutation (219 months). In addition, patients with GATA3 mutation were more likely to be ER positive and HER2 negative. Conclusions: In the mammary gland, GATA3 is required for luminal epithelial cell differentiation. Loss of GATA3 results in de-differentiation to stem cell phenotype. It is found that GATA3 mutation correlates with a better prognosis compared to more common TP53 and PIK3CA gene mutations.
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Darooei, Mina, Subhadra Poornima, Bibi Umae Salma, Gayatri R. Iyer, Akhilesh N. Pujar, Srirambhatla Annapurna, Ashwin Shah, Srinivas Maddali, and Qurratulain Hasan. "Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population." Tumor Biology 39, no. 2 (February 2017): 101042831769430. http://dx.doi.org/10.1177/1010428317694303.

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Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014–2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.
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Kluźniak, Wojciech, Dominika Wokołorczyk, Bogna Rusak, Tomasz Huzarski, Aniruddh Kashyap, Klaudia Stempa, Helena Rudnicka, et al. "Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer." Cancers 11, no. 10 (October 13, 2019): 1548. http://dx.doi.org/10.3390/cancers11101548.

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Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. To investigate whether heterozygous carriers of a BLM mutation are predisposed to breast cancer, we sequenced BLM in 617 patients from Polish families with a strong family history of breast cancer. We detected a founder mutation (c.1642C>T, p.Gln548Ter) in 3 of the 617 breast cancer patients (0.49%) who were sequenced. Then, we genotyped 14,804 unselected breast cancer cases and 4698 cancer-free women for the founder mutation. It was identified in 82 of 14,804 (0.55%) unselected cases and in 26 of 4698 (0.55%) controls (OR = 1.0; 95%CI 0.6–1.6). Clinical characteristics of breast cancers in the BLM mutation carriers and non-carriers were similar. Loss of the wild-type BLM allele was not detected in cancers from the BLM mutation carriers. No cancer type was more common in the relatives of mutation carriers compared to relatives of non-carriers. The BLM founder mutation p.Gln548Ter, which in a homozygous state is a cause of Bloom syndrome, does not appear to predispose to breast cancer in a heterozygous state. The finding casts doubt on the designation of BLM as an autosomal dominant breast cancer susceptibility gene.
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Testa, Ugo, Germana Castelli, and Elvira Pelosi. "Breast Cancer: A Molecularly Heterogenous Disease Needing Subtype-Specific Treatments." Medical Sciences 8, no. 1 (March 23, 2020): 18. http://dx.doi.org/10.3390/medsci8010018.

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Breast cancer is the most commonly occurring cancer in women. There were over two-million new cases in world in 2018. It is the second leading cause of death from cancer in western countries. At the molecular level, breast cancer is a heterogeneous disease, which is characterized by high genomic instability evidenced by somatic gene mutations, copy number alterations, and chromosome structural rearrangements. The genomic instability is caused by defects in DNA damage repair, transcription, DNA replication, telomere maintenance and mitotic chromosome segregation. According to molecular features, breast cancers are subdivided in subtypes, according to activation of hormone receptors (estrogen receptor and progesterone receptor), of human epidermal growth factors receptor 2 (HER2), and or BRCA mutations. In-depth analyses of the molecular features of primary and metastatic breast cancer have shown the great heterogeneity of genetic alterations and their clonal evolution during disease development. These studies have contributed to identify a repertoire of numerous disease-causing genes that are altered through different mutational processes. While early-stage breast cancer is a curable disease in about 70% of patients, advanced breast cancer is largely incurable. However, molecular studies have contributed to develop new therapeutic approaches targeting HER2, CDK4/6, PI3K, or involving poly(ADP-ribose) polymerase inhibitors for BRCA mutation carriers and immunotherapy.
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Dissertations / Theses on the topic "Gene mutation/breast disease"

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Chan, V. T. W. "Evaluation of the of the C-HA-RAS in human breast disease by nonisotopic hybridization technology." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233535.

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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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Erkko, H. (Hannele). "TOPBP1, CLSPN and PALB2 genes in familial breast cancer susceptibility." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514289682.

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Abstract The currently known susceptibility genes account for approximately 25% of familial breast cancer predisposition. Additional factors contributing to the pathogenesis of breast cancer are, therefore, likely to be discovered. Most of the known genes affecting breast cancer predisposition function in the DNA damage response pathway. In this study three genes, TOPBP1, CLSPN and PALB2, involved in this complex process were investigated to reveal potentially pathogenic mutations associated with breast cancer susceptibility. In the analysis of the TOPBP1 gene, one novel putative pathogenic alteration was observed. The Arg309Cys variant was found at an elevated frequency among familial cases (19/125) vs. controls (49/697) (p = 0.002; OR 2.4; 95% CI 1.3–4.2). In addition, altogether 18 other germline alterations were observed in this gene, but they all appeared to be harmless polymorphisms. Investigation of CLSPN alterations among familial breast cancer families revealed altogether seven different changes. No clearly pathogenic alterations were observed. However, a potential modifier effect was discovered for the 1195delGlu change. The obtained results suggest that CLSPN alterations are unlikely to be significant breast cancer susceptibility alleles. In the PALB2 gene, a pathogenic mutation c.1592delT was identified 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 of c.1592delT was even higher (2.7%). This mutation was also functionally deficient. It had a markedly decreased BRCA2-binding affinity and was unable to support homologous recombination or to restore cross link repair in PALB2 knock-down cells. Additionally, this mutation was discovered in a familial prostate cancer family and was found to segregate with the disease, suggesting some association also with prostate cancer. The penetrance and hazard ratio associated with PALB2 c.1592delT were determined in unselected breast cancer families. A substantially increased risk of breast cancer (HR 6.1; 95% CI 2.2–17.2; p = 0.01) was discovered resulting in an estimated 40% (95% CI 17–77) breast cancer risk by age 70 years, comparable to that for carriers of BRCA2 mutations. This markedly increased cancer risk suggests that genetic counselling for carriers is needed and screening for this mutation should be considered.
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Dang, Raymond K. B. "Molecular detection of minimal residual disease in breast cancer and leukaemias using p53 tumour suppressor gene mutations as markers." Thesis, University of Edinburgh, 2000. http://hdl.handle.net/1842/22132.

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The use of peripheral blood progenitor cell (PBPC) transplantation is an important advance in the treatment of breast cancer and acute leukaemias, and these conditions are among the commonest indications for this procedure. Inevitably, there is concern that malignant cells may contaminate progenitor cell harvests and be re-infused during transplantation and cause disease relapse. Various methods are available for the detection of such minimal residual disease (MRD), and the key aim of this project was to evaluate the feasibility of using a tumour-specific marker, namely mutations within the p53 gene, for this purpose. This provided a useful model to assess the feasibility of using subtle genetic changes to detect MRD within PBPC harvests from patients with malignant diseases. The first step involved the use of denaturing gradient gel electrophoresis (DGGE) to screen original tumour tissues for mutations to be used as disease markers, in 5 individually PCR-amplified DNA fragments (A to E) covering exons 5 to 8 of p53. The technique was first optimised using cell lines known to contain p53 mutations in each fragment. Optimisation was performed with respect to electrophoresis temperature, time, voltage and polyacrylamide cross-linker. The sensitivity of DGGE in detecting a mutation in a mixed cell population was determined by diluting tumour cells in wild type (WT) cells. Although the presence of a mutation could be demonstrated when tumour cells occurred as 5% of total, a representation of at least 40% was required for the mutant homoduplex to be isolated for sequencing. Clinical samples studied were from 51 breast cancer patients, 38 of whom had metastatic disease or at high risk of metastasis, and 13 had high risk stage II/III disease randomised in a clinical study investigating PBPC transplantation and adjuvant therapy, and from 29 patients with acute leukaemias. A positive result was obtained in 14 of 51 primary breast cancer patients (1 was positive in 2 different fragments) and 3 of 29 patients with acute leukaemias.
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Karppinen, S. M. (Sanna-Maria). "The role of BACH1, BARD1 and TOPBP1 genes in familial breast cancer." Doctoral thesis, University of Oulu, 2009. http://urn.fi/urn:isbn:9789514291593.

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Abstract Approximately 5–10% of all breast cancer cases are estimated to result from a hereditary predisposition to the disease. Currently no more than 25–30% of these familial cases can be explained by mutations in the known susceptibility genes, BRCA1 and BRCA2 being the major ones. Additional predisposing genes are therefore likely to be discovered. This study evaluates whether germline alterations in three BRCA1-associated genes, BACH1 (i.e. BRIP1/FANCJ), BARD1 and TOPBP1, contribute to familial breast cancer. Altogether 214 Finnish patients having breast and/or ovarian cancer were analysed for germline mutations in the BACH1 gene. Nine alterations were observed, four of which located in the protein-encoding region. The previously unidentified Pro1034Leu was considered a possible cancer-associated alteration as it appeared with two-fold higher frequency among cancer cases compared to controls. All the other observed alterations were classified as harmless polymorphisms. Mutation analysis of the BARD1 gene among 126 Finnish patients having family history of breast and/or ovarian cancer revealed seven alterations in the protein-encoding region. The Cys557Ser alteration was seen at an elevated frequency among familial cancer cases compared to controls (p = 0.005, odds ratio [OR] 4.2, 95% confidence interval [CI] 1.7–10.7). The other alterations appeared to be harmless polymorphisms. To evaluate further the possible effect of Cys557Ser on cancer risk, a large case-control study was performed, consisting of 3,956 cancer patients from the Nordic countries. The highest prevalence of Cys557Ser was found among breast and ovarian cancer patients from BRCA1/BRCA2 mutation-negative families (p < 0.001, OR 2.6, 95% CI 1.7–4.0). In contrast, no significant association with male breast cancer, ovarian, colorectal or prostate cancer was observed. The current study is the first evaluating the role of TOPBP1 mutations in familial cancer predisposition. The analysis of 125 Finnish patients having breast and/or ovarian cancer revealed one putative pathogenic alteration. The commonly occurring Arg309Cys allele was observed at a significantly higher frequency among familial cancer cases compared to controls (p = 0.002, OR 2.4, 95% CI 1.3–4.2). The other 18 alterations observed were classified as harmless polymorphisms.
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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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Haanpää, M. (Maria). "Hereditary predisposition to breast cancer – with a focus on AATF, MRG15, PALB2, and three Fanconi anaemia genes." Doctoral thesis, Oulun yliopisto, 2014. http://urn.fi/urn:isbn:9789526204581.

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Abstract Around 5−10% of all breast cancer cases are estimated to result from a strong hereditary predisposition to the disease. However, mutations in the currently known breast cancer susceptibility genes account for only 20−30% of all familial cases. Additional factors contributing to the pathogenesis of breast cancer, therefore, await discovery. Aims of this study were to evaluate variations of the AATF and MRG15 genes as novel potential candidates for breast cancer susceptibility, to further examine the prevalence of the cancer-related PALB2 c.1592delT mutation among BRCA-negative high-risk breast cancer families counselled at the Department of Clinical Genetics, Oulu University Hospital, to identify Finnish Fanconi anaemia patients complementation groups as well as causative mutations, and to evaluate the potential role of these mutations in breast cancer susceptibility. The analysis of 121 familial breast cancer cases revealed altogether seven different sequence changes in the AATF gene. However, none of them were considered pathogenic, suggesting that germline mutations in AATF are rare or absent in breast cancer patients. Investigation of the MRG15 gene among familial breast cancer cases revealed seven previously unreported variants, but in silico analyses revealed that none of these variants appeared to modify the function of MRG15. The results suggest that MRG15 alterations are unlikely to be significant breast cancer susceptibility alleles. A previously identified pathogenic PALB2 mutation, c.1592delT, was identified in three patients from a cohort of 62 high-risk BRCA1/2-negative breast cancer patients from the Department of Clinical Genetics. PALB2 c.1592delT mutation testing should thus be a routine part of the genetic counselling protocol, particularly for BRCA1/2-negative high-risk breast cancer patients. Investigation of the complementation groups of Finnish Fanconi anaemia patients revealed a total of six different causative mutations. These mutations were examined further by analysing their prevalence in large cohorts of breast (n=1840) and prostate (n=565) cancers. However, no significant association emerged between cancer predisposition and these FA mutations
Tiivistelmä Arviolta 5−10 prosenttia kaikista rintasyöpätapauksista aiheutuu merkittävästä perinnöllisestä alttiudesta sairauteen. Tällä hetkellä tiedossa olevien rintasyövälle altistavien geenivirheiden ajatellaan kuitenkin selittävän vain noin 20−30 prosenttia kaikista perinnöllisistä tapauksista. On todennäköistä, että uusia tekijöitä, jotka osallistuvat rintasyövän patomekanismiin, on vielä löytymättä. Tämän tutkimuksen tarkoituksena oli arvioida AATF- ja MRG15-geeneissä esiintyvien muutosten mahdollista vaikutusta rintasyöpäalttiuteen, tutkia tarkemmin PALB2 c.1592delT -mutaation esiintymistä BRCA-mutaationegatiivisten korkean rintasyöpäriskin potilaiden joukossa (perinnöllisyyspoliklinikka, Oulun yliopistollinen sairaala) ja määrittää suomalaisten Fanconi-anemiapotilaiden komplementaatioryhmät, sairauden taustalla olevat mutaatiot sekä tutkia näihin mutaatioihin mahdollisesti liittyvää rintasyöpäriskiä. 121 familiaalisen rintasyöpätapauksen analyysissä löytyi yhteensä seitsemän erilaista sekvenssimuutosta AATF-geenissä. Näistä yksikään ei kuitenkaan ollut selvästi patogeeninen. Tuloksen perusteella perinnölliset rintasyövälle altistavat muutokset AATF-geenissä ovat joko erittäin harvinaisia tai niitä ei esiinny lainkaan. MRG15-geenin mutaatioanalyysissä havaittiin seitsemän aikaisemmin raportoimatonta muutosta, mutta in silico -analyysien perusteella millään muutoksista ei ole vaikutusta MRG15-proteiinin toimintaan. Tulosten perusteella on epätodennäköistä, että MRG15-geenin muutokset olisivat merkittäviä rintasyövälle altistavia muutoksia. Jo aiemmin patogeeniseksi todettu PALB2 c.1592delT -mutaatio löydettiin kolmelta niistä perinnöllisyyspoliklinikan korkean syöpäriskin 62 potilaasta, jotka olivat BRCA1/2-geenitestauksessa saaneet normaalin tuloksen. Tulostemme perusteella PALB2 c.1592delT -mutaatiotestaus tulisi Suomessa ottaa osaksi perinnöllisyyspoliklinikoiden tarjomaa tutkimusprotokollaa. Suomalaisten Fanconi-anemiapotilaiden komplementaatioryhmiä selvittävässä tutkimuksessa identifioitiin yhteensä kuusi erilaista tautia aiheuttavaa mutaatiota. Näiden muutosten esiintymistä tutkittiin myös laajoissa rinta- (n=1840) ja eturauhassyöpäaineistoissa (n=565). Tilastollisesti merkittävää assosiaatiota ei kuitenkaan todettu suomalaisten FA-mutaatioiden ja syöpäalttiuden välillä
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Lamont, Jayne Margaret. "Radiation induced DNA damage response in carriers of the breast cancer gene mutation BRCA1." Thesis, Lancaster University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.289050.

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Jiao, Xiang. "Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-182319.

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Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. In paper I, sequencing of 36 previously identified candidate genes in 96 breast tumors with patient-matched normal DNA determined the somatic mutation prevalence of these candidate genes and identified additional mutations in Notch, NF-κB, PI3K, and Hedgehog pathways as well as in processes mediating DNA methylation, RNA processing and calcium signaling. In paper II, comparison of massively parallel mate-pair sequencing results of a human genome before and after phi29-mediated multiple displacement amplification (MDA) revealed that MDA introduces structural alteration artifacts, with an emphasis on false positive inversions, and impairs the sensitivity to detect true inversions. Therefore, MDA has limited value in sample preparation for whole-genome sequencing for structural alteration detection. In paper III, massively parallel paired-end sequencing identified gene rearrangements in 15 hormone receptor negative breast cancers. Forty validated rearrangements were predicted to directly affect 30 genes, involved in epigenetic regulation, cell mitosis, signalling transduction and glycolytic flux. RNA interference-based assays revealed the potential roles in cell growth of some affected genes, among which DDX10 was implicated to be involved in apoptosis. In paper IV, a method for statistical evaluation of putative translocations detected by massively parallel paired-end sequencing was proposed. In an application of this method to analyse translocations detected by cancer genome deep paired-end sequencing, 76 putative translocations were classified into four categories, with the majority likely to be caused by mismapping due to repetitive regions. Taken together, this thesis provides insights into genes and pathways mutated in sporadic breast cancer genomes, which broaden our understanding of the genetic basis of breast cancer and may ultimately facilitate the diagnosis and treatment of this disease.
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Lacerda, Lúcia Maria Wanzeller Guedes de. "Biochemical and molecular genetic studies on gaucher disease in Portugal : the N370S glucocerebrosidae gene mutation." Tese, Porto : Edição do Autor, 1998. http://catalogo.up.pt/F?func=find-b&local_base=UPB01&find_code=SYS&request=000086735.

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Books on the topic "Gene mutation/breast disease"

1

Gene discovery for disease models. Hoboken, N.J: Wiley, 2011.

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Wang, Yongjun, and Weikuan Gu. Gene Discovery for Disease Models. Wiley & Sons, Incorporated, John, 2011.

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Wang, Yongjun, and Weikuan Gu. Gene Discovery for Disease Models. Wiley & Sons, Incorporated, John, 2011.

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Wang, Yongjun, and Weikuan Gu. Gene Discovery for Disease Models. Wiley & Sons, Incorporated, John, 2011.

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Yarden, Yossi. HER2: Basic Research, Prognosis and Therapy (Breast Disease, 11). Ios Pr Inc, 2001.

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.
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Wheelwright, Jeff. Wandering Gene and the Indian Princess: Race, Religion, and DNA. Norton & Company, Incorporated, W. W., 2012.

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Wandering Gene and the Indian Princess: Race, Religion, and DNA. Norton & Company, Incorporated, W. W., 2012.

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The Wandering Gene and the Indian Princess: Race, Religion, and DNA. New York, USA: W. W. Norton, 2012.

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Walsh, Richard A. Parkinson’s Disease or Essential Tremor? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0016.

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Fragile X-associated tremor ataxia syndrome is a heredodegenerative syndrome that presents in older men as a tremor syndrome with less prominent ataxia and cognitive impairment initially. The underlying genetic cause, a premutation in the FMR1 gene, results in a toxic accumulation of mRNA. The full mutation, a triple-repeat expansion of more than 200 CGG repeats, gives rise to a reduction in FMR1 protein expression and fragile X, a neurodevelopmental disorder that may be identified in successive male generations. The prevalence of carrier status is high in the general population, and it is likely that most movement disorders clinics will have one or more patients with this syndrome, potentially carrying a label of essential tremor.
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Book chapters on the topic "Gene mutation/breast disease"

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Arslan, Cagatay, Zeki G. Surmeli, and Y. Yavuz Ozisik. "Gene Arrays, Prognosis, and Therapeutic Interventions." In Breast Disease, 173–89. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-04606-4_12.

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Arslan, Cagatay, M. Kadri Altundag, and Y. Yavuz Ozisik. "Gene Arrays, Prognosis, and Therapeutic Interventions." In Breast Disease, 207–27. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-22843-3_11.

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Li, Kai, Hanlin Gao, Hong-Guang Xie, Wanping Sun, and Jia Zhang. "Mutation Discovery Using High-Throughput Mutation Screening Technology." In Gene Discovery for Disease Models, 139–63. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2012. http://dx.doi.org/10.1002/9780470933947.ch8.

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Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Cubilin Gene (CUBN) Mutation." In Encyclopedia of Molecular Mechanisms of Disease, 474. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8764.

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Zheng, Hongwei, and Yongjun Wang. "Confirmation of a Mutation by MicroRNA." In Gene Discovery for Disease Models, 343–69. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2012. http://dx.doi.org/10.1002/9780470933947.ch16.

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Edderkaoui, Bouchra. "Determination of the Function of a Mutation." In Gene Discovery for Disease Models, 281–301. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2012. http://dx.doi.org/10.1002/9780470933947.ch14.

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Martinez-Valdez, Hector, and Blanca Ortiz-Quintero. "Confirmation of a Mutation by Multiple Molecular Approaches." In Gene Discovery for Disease Models, 303–42. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2012. http://dx.doi.org/10.1002/9780470933947.ch15.

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Chia, Kee-Seng. "Gene-Environment Interactions in Breast Cancer." In Genetic Effects on Environmental Vulnerability to Disease, 143–55. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/9780470696781.ch11.

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Tümer, Zeynep, Lisbeth Birk Møller, and Nina Horn. "Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease." In Copper Transport and Its Disorders, 83–95. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4859-1_7.

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Kumar, Shalini, Rasika Sowmyalakshmi, Sarah L. Daniels, Ruth Chang, Sankar Surendran, Reuben Matalon, and Jean de Vellis. "Does ASPA Gene Mutation in Canavan Disease Alter Oligodendrocyte Development?" In Advances in Experimental Medicine and Biology, 175–82. Boston, MA: Springer US, 2006. http://dx.doi.org/10.1007/0-387-30172-0_12.

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Conference papers on the topic "Gene mutation/breast disease"

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"Case series: Breast and ovarian cancer syndrome." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685364.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1, 2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA 1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.
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"Case series: Breast and ovarian cancer syndrome." In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685348.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.
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Campo, Ilaria, Zamir Kadija, Michele Zorzetto, Francesca Mariani, Patrizia Morbini, Gerd Schmitz, Matthias Griese, and Maurizio Luisetti. "Familial Interstitial Lung Disease And ABCA3 Gene GLY964ASP Mutation." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6006.

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Silva-Fernandes, Isabelle JoyceLima, Clarissa Gondim Picanço-Albuquerque, Maria Claudia dos Santos Luciano, Deysi Viviana Tenazoa Wong, Maria Júlia Barbosa Bezerra, Flavio Silveira Bitencourt, Francisca Fernanda Barbosa Oliveira, Paulo Goberlanio de Barros Silva, Rosane Oliveira Sant´anna, and Marcos Venicio Alves Lima. "Abstract PS16-30: Pms1 gene: A new risk-mutation description?" In Abstracts: 2020 San Antonio Breast Cancer Virtual Symposium; December 8-11, 2020; San Antonio, Texas. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.sabcs20-ps16-30.

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"A novel mutation in SMPD1 gene in a patient with Niemann-Pick disease." In International Conference on Medicine, Public Health and Biological Sciences. CASRP Publishing Company, Ltd. Uk, 2016. http://dx.doi.org/10.18869/mphbs.2016.140.

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Gelb, Arnold B., Lynn Deng, Vicki A. Freeman, and Stephanie H. Astrow. "Comparison of PTEN protein loss and PI3K gene mutation status in breast cancer." In AACR International Conference: Molecular Diagnostics in Cancer Therapeutic Development– Sep 27-30, 2010; Denver, CO. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/diag-10-a24.

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Ardana, I. Kade Karisma Gita, Zefry Okta Wardana, Vina Rizkiana, Nursasi Handayani, Hendra Susanto, Justinus Dwi Pratjojo Wisnubroto, Alfiyannul Akhsan, Vidi Vianney Chrisana Magrit Tanggo, and Dwi Listyorini. "Mutation and expression analysis of BRCA2 gene in East Java breast cancer cases." In THE 6TH INTERNATIONAL CONFERENCE ON BIOLOGICAL SCIENCE ICBS 2019: “Biodiversity as a Cornerstone for Embracing Future Humanity”. AIP Publishing, 2020. http://dx.doi.org/10.1063/5.0015899.

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Diabasana, Z., R. Belgacemi, J. Ancel, J. Routhier, P. Birembaut, U. Maskos, M. Polette, G. Deslée, and V. Dormoy. "Role of the Nicotinic Acetylcholine Receptor Chrna5 Gene Mutation in Chronic Obstructive Pulmonary Disease." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4018.

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Sotomayor, Talia B., and Anil K. Swayampakula. "Recombinase-Activating Gene-1 Heterozygous Mutation With Atypical Lymphocyte Phenotype And Extensive Lung Disease." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a6736.

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Ozanne, EM, L. Cipriano, M. Cameron, T. Newman, and LJ Esserman. "Cost-effectiveness of surgical interventions for BRCA gene mutation carriers: impact of delaying decision-making." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-503.

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Reports on the topic "Gene mutation/breast disease"

1

Kandel, Rita A. A Cohert Study of the Relationship Between c-erbB-2 and Cyclin D1 Overexpression, p53 Mutation and/or Protein Accumulation, and Risk of Progression from Benign Breast Disease to Breast Cancer; and Creation of a Bank of Benign Breast Tissue. Fort Belvoir, VA: Defense Technical Information Center, October 2000. http://dx.doi.org/10.21236/ada394725.

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