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Добірка наукової літератури з теми "Familial cancer genetics"

Автор: Grafiati

Опубліковано: 8 лютого 2024

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Статті в журналах з теми "Familial cancer genetics"

1

Harnden, D. G. "Familial Cancer." Journal of Medical Genetics 24, no. 3 (March 1, 1987): 190. http://dx.doi.org/10.1136/jmg.24.3.190.

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2

Hemminki, K. "622 Genetics of familial cancer." European Journal of Cancer Supplements 8, no. 5 (June 2010): 158–59. http://dx.doi.org/10.1016/s1359-6349(10)71423-3.

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3

Yu, Hongyao, and Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers." Mutagenesis 35, no. 3 (August 19, 2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.

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Abstract We review here data on familial risk in colorectal cancer (CRC) generated from the Swedish Family-Cancer Database, the largest resource of its kind in the world. Although the concordant familial risk for CRC (i.e. CRC risk in families of CRC patients) has been reasonably well established, the studies on discordant familial risks (i.e. CRC risk in families with any other cancers) are rare. Because different cancers could be caused by shared genetic susceptibility or shared environment, data of associations of discordant cancers may provide useful information for identifying common risk factors. In analyses between any of 33 discordant cancers relative risks (RRs) for discordant cancers were estimated in families with increasing numbers of probands with CRC; in the reverse analyses, RRs for CRC were estimated in families with increasing numbers of probands with discordant cancers. In separate analyses, hereditary non-polyposis colorectal cancer (HNPCC) families were excluded from the study, based on HNPCC related double primary cancers, to assess the residual familial RRs. We further reviewed familial risks of colon and rectal cancers separately in search for distinct discordant associations. The reviewed data suggested that colon cancer was associated with a higher familial risk for CRC compared to rectal cancer. The previous data had reported associations of CRC with melanoma, thyroid and eye cancers. Nervous system cancer was only associated with colon cancer, and lung cancer only associated with rectal cancer. The reviewed data on discordant association may provide guidance to gene identification and may help genetic counseling.

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4

Eccles, D. M. "Familial Cancer Management." Journal of Medical Genetics 34, no. 4 (April 1, 1997): 351. http://dx.doi.org/10.1136/jmg.34.4.351.

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5

Peters, Niamh, Sinead King, Emily O'Donovan, David James Gallagher, and John V. Reynolds. "Oesophageal cancer: Commonly familial, possibly heritable." Journal of Clinical Oncology 35, no. 4_suppl (February 1, 2017): 23. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.23.

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23 Background: Oesophageal cancer (OC) accounts for 400 deaths in Ireland per year. Prognosis remains poor, and improved prevention is needed. Familial clustering has been described however, The Nordic Twin Study of Cancer does not support a strong hereditability. We investigated familial OC over a decade in Ireland. Methods: The independent records of two national referral services were reviewed: an oesophageal surgery database and a hereditary cancer genetics database. Demographic Factors including family history of OC were recorded from the surgical database. Families containing a single OC diagnosis were identified in the genetics database. Age at diagnosis and additional cancer diagnoses in the family were recorded. Results: 1238 patients with OC were seen at St. James’s Hospital from 2005 to 2015. Demographic characteristics are shown in Table. 641 patients (51%) had a family history of malignancy. Seventy eight (6.3%) reported a family history of OC, 6 (7.6%) of whom had two or more first degree relatives with OC and 10 (13%) had both a first degree and second degree relative with OC. More male relatives were diagnosed with OC than female (59% vs 41%).The majority (24%) with a family history were diagnosed at Stage III, the majority (29%) without a family history were diagnosed at Stage II. 1840 pedigrees from the genetic database were reviewed. No pedigree contained a Proband with OC.4.5%(n = 84) included at least one family member with OC. The median age at diagnosis was 64. Breast, colorectal and gastric were the most commonly associated cancers with median ages of 50,59 and 64 respectively. Conclusions: More than half of patients presenting with OC report a family history of cancer, with likely hereditary and environmental components. OC patients are rarely referred for genetic assessment, possibly due to treatment related morbidity and poor clinical outcome. [Table: see text]

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6

Rogers, Carmelle D., Michiel S. van der Heijden, Kieran Brune, Charles J. Yeo, Ralph H. Hruban, Scott E. Kern, and Michael Goggins. "The Genetics ofFANCCandFANCGin Familial Pancreatic Cancer." Cancer Biology & Therapy 3, no. 2 (February 2, 2004): 167–69. http://dx.doi.org/10.4161/cbt.3.2.609.

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7

Cavenee, W. K., and M. F. Hansen. "Molecular Genetics of Human Familial Cancer." Cold Spring Harbor Symposia on Quantitative Biology 51 (January 1, 1986): 829–35. http://dx.doi.org/10.1101/sqb.1986.051.01.096.

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8

Rieder, Harald, and Detlef K. Bartsch. "Familial Pancreatic Cancer." Familial Cancer 3, no. 1 (2002): 69–74. http://dx.doi.org/10.1023/b:fame.0000026822.67291.a1.

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9

Barrisford, Glen W., Eric A. Singer, Inger L. Rosner, W. Marston Linehan, and Gennady Bratslavsky. "Familial Renal Cancer: Molecular Genetics and Surgical Management." International Journal of Surgical Oncology 2011 (2011): 1–11. http://dx.doi.org/10.1155/2011/658767.

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Familial renal cancer (FRC) is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families affected by von Hippel-Lindau (VHL), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis renal cell carcinoma (HLRCC), and Birt-Hogg-Dubé (BHD) are rapidly changing. We review the genetics and contemporary surgical management of familial forms of kidney cancer.

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10

Sukumaran, Shobini, and Kunal Chawathey. "Familial breast cancer." InnovAiT: Education and inspiration for general practice 10, no. 2 (December 27, 2016): 82–88. http://dx.doi.org/10.1177/1755738016685893.

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Breast cancer is the most common malignancy in women; it affects about one in eight women. Familial breast cancer typically presents earlier than sporadic breast cancer, and is more often bilateral than in sporadic cases. Ovarian cancer is more common in familial breast cancer. A large number of studies have confirmed an increased breast cancer risk in patients with a significant family history of breast cancer. The breast cancer genotype has an autosomal dominant pattern of transmission. This article considers familial breast cancer and various aspects of breast cancer management in primary care, including the genetics of familial breast cancer, and guidelines on referral to secondary care.

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Більше джерел

Дисертації з теми "Familial cancer genetics"

1

Agenbag, Gloudi. "Molecular genetic analysis of familial breast cancer in South Africa." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/953.

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2

Henry, Marie-Louise. "Non-thyroid malignancies in familial non-medullary thyroid cancer." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1555088063551251.

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3

Rattenberry, Eleanor Clare. "Identification and assessment of variants of uncertain significance in familial cancer syndromes." Thesis, University of Birmingham, 2016. http://etheses.bham.ac.uk//id/eprint/6742/.

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The identification of the causative mutation(s) in individuals with familial cancer syndromes informs their clinical management and allows cascade testing of family members, which informs their clinical management in turn. The advent of next generation sequencing (NGS) has revolutionised diagnostic genetic analysis, demonstrated by this thesis. Three novel NGS assays have been developed. The first two assays allowed more comprehensive analysis of two genetically heterogeneous tumours, phaeochromocytoma/parganglioma and renal cell carcinoma, by creation of NGS-based gene panel tests. These assays allowed increased detection of germline mutations at a lower cost per gene and reduced processing time compared to previous methods of analysis. The third assay also uses NGS but, instead, to more thoroughly analyse a single gene. The full gene region for VHL was examined at mosaic detection level, with a clinically actionable mutation identified in 18% of patients with von Hippel-Lindau disease in whom a mutation could not be identified by conventional analysis. The difficulty of providing more comprehensive genetic analysis is the concurrent increase in identification of variants of uncertain significance (VUSs). In depth variant analysis was conducted for all VUSs identified during this research. The reassignment of 17% of these VUSs as pathogenic or benign was enabled.

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4

Naicker, Sundresan. "Evaluating Familial History as a Phenotypic Screening Tool for Colorectal Cancer in the Australian General Practice Population." Thesis, University of Sydney, 2016. http://hdl.handle.net/2123/16868.

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Colorectal cancer (CRC) is the second most common cancer among males and third among females across the world. In Australia it is the second most prevalent and the second leading cause of cancer-related mortality with the number of CRC incidences doubling over the last decade. While there has been a reduction of the incidence-adjusted mortality of CRC, a significant number of CRC detections are made at either the intermediate or later stages of the disease progression despite the roll out of a population based screening program for individuals aged 50 and over. Data shows that ‘one size fits all’ nature of the program despite recommendations from the NHMRC to screen according to the familial risk of an individual and inappropriate colonoscopy referrals, may have led to over screening those at average risk while potentially under-screening and missing those at an increased risk. Furthermore this program may have missed individuals under the age of 50 that have a high familial lifetime risk of developing CRC and require earlier CRC screening with a colonoscopy. It was hypothesised that implementing an online familial risk tool that notified both patients (aged 25-74) and their GPs of their familial CRC lifetime risk would increase the uptake of risk-appropriate screening among the study population relative to controls that receive usual care, during the 12 month study period. In doing so, this thesis used a complex intervention aimed at improving the rate of risk-appropriate screening for colorectal cancer (CRC) among an Australian General Practice population. This intervention utilised an online evidenced -based familial history algorithm, that stratified participants into three Australian National Health and Medical Research Council (NHMRC) recommended relative risk groups for screening CRC. These categories are based on a strong body of evidence showing that familial phenotype as measured by family history is a significant and non-modifiable risk factor for an increased lifetime risk of CRC. The algorithm used in the online tool was adapted from the NHMRC guidelines but were also updated by utilising the most recent evidence-base in addition to consulting with a group of experts. This algorithm was then programmed into an online website called “Which test is best?”. This website notified participants of their familial risk in addition to faxing or emailing this information to their consulting General Practitioner (GP). The website was piloted among members of a cancer consumer group (n=26), before being amended to improve clarity and the website interface. It was then implemented in a clustered RCT to evaluate its effect on risk-appropriate CRC screening. The intervention was implemented at both the cluster (GP practice) (Intervention n=27, Control n=28) and participant (eligible patients aged 25-74 with no personal history of CRC and/or inflammatory bowel diseases) level (Intervention, n=836, Control n=726). Those in the intervention arm were given access to the online website with risk tool and their family history information. In addition to their familial risk category with NHMRC recommended screening guidelines were forwarded to their consulting GP, while the control group had usual care. Both groups were followed up 12 months later to obtain their self-reported CRC screening information using the online survey. Thereafter, the control group was immediately given access to the online website with risk tool so that their family history information could be recorded and the level of risk-appropriate screening could be calculated for both groups. The results from this study showed ,that there was no significant difference in risk-appropriate screening rates amongst participants allocated to the intervention group compared to the control group as there was no main effect of allocation when included as a predictor within a binomial logistic regression when modelled to the GEE. However, participants allocated to the intervention group that were designated as belonging to the potentially high-risk category did engage in significantly higher levels of risk-appropriate screening when compared to the control group at 12 month follow-up. This was observed by a significant interaction effect of both family history and allocation in predicting risk-appropriate screening the final GEE model. Specifically, potentially high-risk individuals that were allocated to the intervention group had higher odds (about five times) of engaging in risk-appropriate screening when compared to those at population level risk that were assigned to either control or intervention, when controlling for other variables. This suggests that the online familial risk tool was effective in changing the behaviour of participants from the intervention group that were categorised as having a family history consistent with a potentially high risk (defined as having lifetime relative risk three times or greater of the general population) of developing CRC in their lifetimes. GPs from participating clusters were followed up by a survey (n=66) to assess their attitudes, knowledge and perceived barriers on utilising family history to risk-appropriately screen their average risk patients. Three important findings emerged from this survey. Firstly it shows that the majority of GPs in this study regard family history as the most important factor in screening their asymptomatic patients for CRC. It also shows that these GPs in principle strongly support the NHMRC guidelines, continuing education and peer-reviewed evidence as the most important knowledge factors in evaluating their CRC screening recommendations for asymptomatic patients, while being somewhat less influenced by government policy and their patients’ personal perceptions about the efficacy of a particular CRC screening test. However GPs appear very sensitive to their patients’ fears and anxiety over CRC screening, assessing this factor as the most important barrier to screening for CRC followed by their subjective lack of experience with CRC screening and time constraints imposed during the consultation. Findings also showed a substantial level of dissonance between what GPs believe to be appropriate CRC screening for their asymptotic patients and what they may be likely to recommend with 77% GPs self-reporting that they still refer up to 10 average risk asymptomatic patients to a colonoscopy during a typical month. Taken together the findings from this thesis show that that an intervention which aims to include both the patient and GP improves the uptake CRC risk-appropriate screening for individuals with potentially high-risk. It shows that a tailored risk tool, that supports GP triage may be sufficient to improve uptake of CRC screening modalities across all risk groups but may not be sufficient to encourage risk-appropriate screening of those from average and moderate risk. This is mainly due to persistent over-screening in the average-risk group within our study sample. Future studies may need to examine and differentiate between under screeners and over-screeners in order to target and tailor interventions to those groups separately.

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5

Naicker, Sundresan. "Evaluating Familial History as a Phenotypic Screening Tool for Colorectal Cancer in the Australian General Practice Population." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/16868.

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Анотація:

Colorectal cancer (CRC) is the second most common cancer among males and third among females across the world. In Australia it is the second most prevalent and the second leading cause of cancer-related mortality with the number of CRC incidences doubling over the last decade. While there has been a reduction of the incidence-adjusted mortality of CRC, a significant number of CRC detections are made at either the intermediate or later stages of the disease progression despite the roll out of a population based screening program for individuals aged 50 and over. Data shows that ‘one size fits all’ nature of the program despite recommendations from the NHMRC to screen according to the familial risk of an individual and inappropriate colonoscopy referrals, may have led to over screening those at average risk while potentially under-screening and missing those at an increased risk. Furthermore this program may have missed individuals under the age of 50 that have a high familial lifetime risk of developing CRC and require earlier CRC screening with a colonoscopy. It was hypothesised that implementing an online familial risk tool that notified both patients (aged 25-74) and their GPs of their familial CRC lifetime risk would increase the uptake of risk-appropriate screening among the study population relative to controls that receive usual care, during the 12 month study period. In doing so, this thesis used a complex intervention aimed at improving the rate of risk-appropriate screening for colorectal cancer (CRC) among an Australian General Practice population. This intervention utilised an online evidenced -based familial history algorithm, that stratified participants into three Australian National Health and Medical Research Council (NHMRC) recommended relative risk groups for screening CRC. These categories are based on a strong body of evidence showing that familial phenotype as measured by family history is a significant and non-modifiable risk factor for an increased lifetime risk of CRC. The algorithm used in the online tool was adapted from the NHMRC guidelines but were also updated by utilising the most recent evidence-base in addition to consulting with a group of experts. This algorithm was then programmed into an online website called “Which test is best?”. This website notified participants of their familial risk in addition to faxing or emailing this information to their consulting General Practitioner (GP). The website was piloted among members of a cancer consumer group (n=26), before being amended to improve clarity and the website interface. It was then implemented in a clustered RCT to evaluate its effect on risk-appropriate CRC screening. The intervention was implemented at both the cluster (GP practice) (Intervention n=27, Control n=28) and participant (eligible patients aged 25-74 with no personal history of CRC and/or inflammatory bowel diseases) level (Intervention, n=836, Control n=726). Those in the intervention arm were given access to the online website with risk tool and their family history information. In addition to their familial risk category with NHMRC recommended screening guidelines were forwarded to their consulting GP, while the control group had usual care. Both groups were followed up 12 months later to obtain their self-reported CRC screening information using the online survey. Thereafter, the control group was immediately given access to the online website with risk tool so that their family history information could be recorded and the level of risk-appropriate screening could be calculated for both groups. The results from this study showed ,that there was no significant difference in risk-appropriate screening rates amongst participants allocated to the intervention group compared to the control group as there was no main effect of allocation when included as a predictor within a binomial logistic regression when modelled to the GEE. However, participants allocated to the intervention group that were designated as belonging to the potentially high-risk category did engage in significantly higher levels of risk-appropriate screening when compared to the control group at 12 month follow-up. This was observed by a significant interaction effect of both family history and allocation in predicting risk-appropriate screening the final GEE model. Specifically, potentially high-risk individuals that were allocated to the intervention group had higher odds (about five times) of engaging in risk-appropriate screening when compared to those at population level risk that were assigned to either control or intervention, when controlling for other variables. This suggests that the online familial risk tool was effective in changing the behaviour of participants from the intervention group that were categorised as having a family history consistent with a potentially high risk (defined as having lifetime relative risk three times or greater of the general population) of developing CRC in their lifetimes. GPs from participating clusters were followed up by a survey (n=66) to assess their attitudes, knowledge and perceived barriers on utilising family history to risk-appropriately screen their average risk patients. Three important findings emerged from this survey. Firstly it shows that the majority of GPs in this study regard family history as the most important factor in screening their asymptomatic patients for CRC. It also shows that these GPs in principle strongly support the NHMRC guidelines, continuing education and peer-reviewed evidence as the most important knowledge factors in evaluating their CRC screening recommendations for asymptomatic patients, while being somewhat less influenced by government policy and their patients’ personal perceptions about the efficacy of a particular CRC screening test. However GPs appear very sensitive to their patients’ fears and anxiety over CRC screening, assessing this factor as the most important barrier to screening for CRC followed by their subjective lack of experience with CRC screening and time constraints imposed during the consultation. Findings also showed a substantial level of dissonance between what GPs believe to be appropriate CRC screening for their asymptotic patients and what they may be likely to recommend with 77% GPs self-reporting that they still refer up to 10 average risk asymptomatic patients to a colonoscopy during a typical month. Taken together the findings from this thesis show that that an intervention which aims to include both the patient and GP improves the uptake CRC risk-appropriate screening for individuals with potentially high-risk. It shows that a tailored risk tool, that supports GP triage may be sufficient to improve uptake of CRC screening modalities across all risk groups but may not be sufficient to encourage risk-appropriate screening of those from average and moderate risk. This is mainly due to persistent over-screening in the average-risk group within our study sample. Future studies may need to examine and differentiate between under screeners and over-screeners in order to target and tailor interventions to those groups separately.

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6

Kechik, Joy E. "Comparing Family Sharing Behaviors in BRCA Carriers with PALB2 Carriers." Scholar Commons, 2019. https://scholarcommons.usf.edu/etd/7825.

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Identifying individuals with hereditary cancer predisposition can improve health outcomes for patients and their family members through early cancer detection and prevention strategies. Prior research about family sharing of genetic test results among those with hereditary breast cancer has overwhelmingly been limited to the BRCA1 and BRCA2 genes. The present study sought to compare family sharing behaviors in women with pathogenic BRCA variants to women with pathogenic variants in the more recently identified and characterized PALB2 gene. A total of 18 BRCA carriers and 13 PALB2 carriers were interviewed about family sharing practices using a semi-structured guide based on the Integrated Behavioral Model. Barriers and facilitators to family sharing were similar for both BRCA and PALB2 carriers, with logistical difficulties and emotional struggles related to anticipated negative reactions from relatives being the most salient barriers. The most important facilitators were: attitude that sharing enables health protection, provider recommendation, strong family relationships, confidence in sharing basic information, knowledge of what to share and how to share, and belief that sharing is highly important. Given similar attitudes, norms, and control beliefs related to family sharing, similar, but tailored interventions may be effective at increasing family disclosures among both groups. Such interventions should involve a discussion of patients’ attitudes towards sharing with healthcare providers to strengthen motivations and address barriers and provision of informational resources to increase confidence and knowledge. Family sharing resources should clearly specify which relatives need to be informed, why sharing is important, and how at-risk relatives may benefit.

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7

de, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." Thesis, The University of Sydney, 2008. http://hdl.handle.net/2123/3878.

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BCC is the commonest cancer in European-derived populations and Australia has the highest recorded incidence in the world, creating enormous individual and societal cost in management of this disease. The incidence of this cancer has been increasing internationally, with evidence of a 1 to 2% rise in incidence in Australia per year over the last two decades. The main four epidemiological risk factors for the development of BCC are ultraviolet radiation (UVR) exposure, increasing age, male sex, and inability to tan. The pattern and timing of UVR exposure is important to BCC risk, with childhood and intermittent UVR exposure both associated with an increased risk. The complex of inherited characteristics making up an individual’s ‘sun sensitivity’ is also important in determining BCC risk. Very little is known about population genetic susceptibility to BCC outside of the rare genodermatosis Gorlin syndrome. Mutations in the tumour suppressor gene patched (PTCH) are responsible for this BCC predisposition syndrome and the molecular pathway and target genes of this highly conserved pathway are well described. Derangments in this pathway occur in sporadic BCC development, and the PTCH gene is an obvious candidate to contribute to non-syndromic susceptibility to BCC. The melanocortin 1 receptor (MC1R) locus is known to be involved in pigmentary traits and the cutaneous response to UVR, and variants have been associated with skin cancer risk. Many other genes have been considered with respect to population BCC risk and include p53, HPV, GSTs, and HLAs. There is preliminary evidence for specific familial aggregation of BCC, but very little known about the causes. 56 individuals who developed BCC under the age of 40 in the year 2000 were recruited from the Skin and Cancer Foundation of Australia’s database. This represents the youngest 7 – 8% of Australians with BCC from a database that captures approximately 10% of Sydney’s BCCs. 212 of their first degree relatives were also recruited, including 89 parents and 123 siblings of these 56 probands. All subjects were interviewed with respect to their cancer history and all reports of cancer verified with histopathological reports where possible. The oldest unaffected sibling for each proband (where available) was designated as an intra-family control. All cases and control siblings filled out a questionnaire regarding their pigmentary and sun sensitivity factors and underwent a skin examination by a trained examiner. Peripheral blood was collected from these cases and controls for genotyping of PTCH. All the exons of PTCH for which mutations have been documented in Gorlin patients were amplified using PCR. PCR products were screened for mutations using dHPLC, and all detectable variants sequenced. Prevalence of BCC and SCC for the Australian population was estimated from incidence data using a novel statistical approach. Familial aggregation of BCC, SCC and MM occurred within the 56 families studied here. The majority of families with aggregation of skin cancer had a combination of SCC and BCC, however nearly one fifth of families in this study had aggregation of BCC to the exclusion of SCC or MM, suggesting that BCCspecific risk factors are also likely to be at work. Skin cancer risks for first-degree relatives of people with early onset BCC were calculated: sisters and mothers of people with early-onset BCC had a 2-fold increased risk of BCC; brothers had a 5-fold increased risk of BCC; and sisters and fathers of people with early-onset BCC had over four times the prevalence of SCC than that expected. For melanoma, the increased risk was significant for male relatives only, with a 10-fold increased risk for brothers of people with early-onset BCC and 3-fold for fathers. On skin examination of cases and controls, several phenotypic factors were significantly associated with BCC risk. These included increasing risk of BCC with having fair, easyburning skin (ie decreasing skin phototype), and with having signs of cumulative sun damage to the skin in the form of actinic keratoses. Signs reflecting the combination of pigmentary characteristics and sun exposure - in the form of arm freckling and solar lentigines - also gave subjects a significantly increased risk BCC. Constitutive red-green reflectance of the skin was associated with decreased risk of BCC, as measured by spectrophotometery. Other non-significant trends were seen that may become significant in larger studies including associations of BCC with propensity to burn, moderate tanning ability and an inability to tan. No convincing trend for risk of BCC was seen with the pigmentary variables of hair or eye colour, and a non-significant reduced risk of BCC was associated with increasing numbers of seborrhoeic keratoses. Twenty PTCH exons (exons 2, 3, 5 to 18, and 20 to 23) were screened, accounting for 97% of the coding regions with published mutations in PTCH. Nine of these 20 exons were found to harbour single nucleotide polymorphisms (SNPs), seen on dHPLC as variant melting curves and confirmed on direct sequencing. SNPs frequencies were not significantly different to published population frequencies, or to Australian general population frequencies where SNP database population data was unavailable. Assuming a Poisson distribution, and having observed no mutations in a sample of 56, we can be 97.5% confident that if there are any PTCH mutations contributing to early-onset BCC in the Australian population, then their prevalence is less than 5.1%. Overall, this study provides evidence that familial aggregation of BCC is occurring, that first-degree relatives are at increased risk of all three types of skin cancer, and that a combination of environmental and genetic risk factors are likely to be responsible. The PTCH gene is excluded as a major cause of this increased susceptibility to BCC in particular and skin cancer in general. The weaknesses of the study design are explored, the possible clinical relevance of the data is examined, and future directions for research into the genetics of basal cell carcinoma are discussed.

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8

de, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." University of Sydney, 2008. http://hdl.handle.net/2123/3878.

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Анотація:

Doctor of Philosophy(PhD)
BCC is the commonest cancer in European-derived populations and Australia has the highest recorded incidence in the world, creating enormous individual and societal cost in management of this disease. The incidence of this cancer has been increasing internationally, with evidence of a 1 to 2% rise in incidence in Australia per year over the last two decades. The main four epidemiological risk factors for the development of BCC are ultraviolet radiation (UVR) exposure, increasing age, male sex, and inability to tan. The pattern and timing of UVR exposure is important to BCC risk, with childhood and intermittent UVR exposure both associated with an increased risk. The complex of inherited characteristics making up an individual’s ‘sun sensitivity’ is also important in determining BCC risk. Very little is known about population genetic susceptibility to BCC outside of the rare genodermatosis Gorlin syndrome. Mutations in the tumour suppressor gene patched (PTCH) are responsible for this BCC predisposition syndrome and the molecular pathway and target genes of this highly conserved pathway are well described. Derangments in this pathway occur in sporadic BCC development, and the PTCH gene is an obvious candidate to contribute to non-syndromic susceptibility to BCC. The melanocortin 1 receptor (MC1R) locus is known to be involved in pigmentary traits and the cutaneous response to UVR, and variants have been associated with skin cancer risk. Many other genes have been considered with respect to population BCC risk and include p53, HPV, GSTs, and HLAs. There is preliminary evidence for specific familial aggregation of BCC, but very little known about the causes. 56 individuals who developed BCC under the age of 40 in the year 2000 were recruited from the Skin and Cancer Foundation of Australia’s database. This represents the youngest 7 – 8% of Australians with BCC from a database that captures approximately 10% of Sydney’s BCCs. 212 of their first degree relatives were also recruited, including 89 parents and 123 siblings of these 56 probands. All subjects were interviewed with respect to their cancer history and all reports of cancer verified with histopathological reports where possible. The oldest unaffected sibling for each proband (where available) was designated as an intra-family control. All cases and control siblings filled out a questionnaire regarding their pigmentary and sun sensitivity factors and underwent a skin examination by a trained examiner. Peripheral blood was collected from these cases and controls for genotyping of PTCH. All the exons of PTCH for which mutations have been documented in Gorlin patients were amplified using PCR. PCR products were screened for mutations using dHPLC, and all detectable variants sequenced. Prevalence of BCC and SCC for the Australian population was estimated from incidence data using a novel statistical approach. Familial aggregation of BCC, SCC and MM occurred within the 56 families studied here. The majority of families with aggregation of skin cancer had a combination of SCC and BCC, however nearly one fifth of families in this study had aggregation of BCC to the exclusion of SCC or MM, suggesting that BCCspecific risk factors are also likely to be at work. Skin cancer risks for first-degree relatives of people with early onset BCC were calculated: sisters and mothers of people with early-onset BCC had a 2-fold increased risk of BCC; brothers had a 5-fold increased risk of BCC; and sisters and fathers of people with early-onset BCC had over four times the prevalence of SCC than that expected. For melanoma, the increased risk was significant for male relatives only, with a 10-fold increased risk for brothers of people with early-onset BCC and 3-fold for fathers. On skin examination of cases and controls, several phenotypic factors were significantly associated with BCC risk. These included increasing risk of BCC with having fair, easyburning skin (ie decreasing skin phototype), and with having signs of cumulative sun damage to the skin in the form of actinic keratoses. Signs reflecting the combination of pigmentary characteristics and sun exposure - in the form of arm freckling and solar lentigines - also gave subjects a significantly increased risk BCC. Constitutive red-green reflectance of the skin was associated with decreased risk of BCC, as measured by spectrophotometery. Other non-significant trends were seen that may become significant in larger studies including associations of BCC with propensity to burn, moderate tanning ability and an inability to tan. No convincing trend for risk of BCC was seen with the pigmentary variables of hair or eye colour, and a non-significant reduced risk of BCC was associated with increasing numbers of seborrhoeic keratoses. Twenty PTCH exons (exons 2, 3, 5 to 18, and 20 to 23) were screened, accounting for 97% of the coding regions with published mutations in PTCH. Nine of these 20 exons were found to harbour single nucleotide polymorphisms (SNPs), seen on dHPLC as variant melting curves and confirmed on direct sequencing. SNPs frequencies were not significantly different to published population frequencies, or to Australian general population frequencies where SNP database population data was unavailable. Assuming a Poisson distribution, and having observed no mutations in a sample of 56, we can be 97.5% confident that if there are any PTCH mutations contributing to early-onset BCC in the Australian population, then their prevalence is less than 5.1%. Overall, this study provides evidence that familial aggregation of BCC is occurring, that first-degree relatives are at increased risk of all three types of skin cancer, and that a combination of environmental and genetic risk factors are likely to be responsible. The PTCH gene is excluded as a major cause of this increased susceptibility to BCC in particular and skin cancer in general. The weaknesses of the study design are explored, the possible clinical relevance of the data is examined, and future directions for research into the genetics of basal cell carcinoma are discussed.

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Díaz, Gay Marcos. "Identification of new candidate genes for germline predisposition to familial colorectal cancer using somatic mutational profiling." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/668900.

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Colorectal cancer (CRC) is one of the malignant neoplasms with higher incidence and mortality in Spain, Europe and worldwide. As a complex disease, both environmental and genetic factors influence CRC predisposition. Up to 35% of CRC patients present familial aggregation for the disease, whereas only around 2-8% of cases are linked to a well-known hereditary syndrome associated to pathogenic germline alterations in specific genes, namely APC, MUTYH, POLE, POLD1 or the DNA mismatch repair genes. During last years, next generation sequencing (NGS) techniques such as whole exome sequencing (WES) have been used to address this gap of missing heritability. Characterization of somatic mutational profiles, performed by the application of NGS to both germline and tumor DNA, has also been recently established as a powerful tool to identify novel genes linked to CRC predisposition. However, although some bioinformatic packages have been developed to address this analysis, it remains inaccessible for a substantial proportion of the scientific community. Accordingly, the main purpose of this doctoral thesis was to identify new genes involved in germline predisposition to familial CRC, by using an integrated germline-tumor WES analysis and somatic mutational profiling, as well as facilitating the application of these genomic analyses to the scientific community. As a first step, a bioinformatic tool to deal with somatic mutational profiling was developed. Shiny framework was used to build MuSiCa, a user-friendly web application freely accessible and potentially useful for non-specialized researchers. Tumor mutational burden calculation and mutational signature refitting analysis according to the information present in COSMIC database is available, as well as different options for sample classification through clustering and principal component analysis. Subsequently, an integrated germline-tumor analysis was implemented in a cohort of 18 familial CRC unrelated patients. WES data of both germline and tumor DNA was available, allowing the identification of new potential tumor suppressor genes according to Knudson’s two-hit hypothesis. Benefitting from the development of MuSiCa application, somatic mutational profiling was also analyzed, uncovering five hypermutated samples. An enrichment of DNA repair-associated genes was found, as well as some genes previously linked to predisposition syndromes to other cancer types. BRCA2, BLM, ERCC2, RECQL, REV3L and RIF1 were found as the most promising candidate genes for germline CRC predisposition. Interestingly, a germline mutation was found in the DNA repair gene RECQL in a patient with one of the hypermutated tumors, reinforcing the putative role of this gene in hereditary CRC. These findings could be helpful in clinical practice improving genetic counseling in the affected families.
El cáncer colorrectal (CCR) es una de las neoplasias con mayor incidencia y mortalidad en España y el mundo. Aunque un 35% de los pacientes presentan agregación familiar, sólo un 2-8% se asocia con un síndrome hereditario conocido, causado por mutaciones germinales en genes como APC, MUTYH, POLE, POLD1 o los genes del sistema de reparación del ADN por mal apareamiento de bases. En los últimos años, las técnicas de secuenciación de nueva generación (SNG), como la secuenciación del exoma completo (SEC), han sido utilizadas para el descubrimiento de nuevos genes implicados en la predisposición al CCR. La caracterización de los perfiles mutacionales somáticos, aplicando SNG al ADN germinal y tumoral, también se ha utilizado recientemente en este proceso. Sin embargo, aunque se han desarrollado algunos paquetes bioinformáticos para su análisis, todavía permanece inaccesible para una gran parte de la comunidad científica. En consecuencia, el objetivo principal de esta tesis doctoral ha sido el de identificar nuevos genes implicados en la predisposición germinal al CCR familiar, utilizando un análisis de SEC germinal-tumoral y caracterización mutacional somática, así como facilitar la aplicación de estos análisis genómicos a la comunidad científica. En primer lugar, se llevó a cabo el desarrollo de una herramienta bioinformática denominada Mutational Signatures in Cancer (MuSiCa), una aplicación web de manejo sencillo y acceso libre desarrollada a través de la plataforma Shiny, que permite el cálculo de la carga mutacional tumoral y la caracterización de las firmas mutacionales según la información disponible en la base de datos COSMIC. Posteriormente, se implementó un análisis integrado de SEC germinal-tumoral en una cohorte de 18 pacientes de CCR familiar, complementado con una caracterización mutacional somática, gracias al desarrollo de MuSiCa. Se detectaron cinco tumores hipermutados, así como un enriquecimiento de mutaciones germinales en genes involucrados previamente en síndromes de predisposición a otros tipos de cáncer y a la reparación del ADN. Los genes BRCA2, BLM, ERCC2, RECQL, REV3L y RIF1 fueron priorizados como los más prometedores de cara a la predisposición al CCR. Estos descubrimientos podrían ser de utilidad en la práctica clínica, mejorando el consejo genético en las familias afectadas.

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10

Sun, Sophie. "CDKN2Ap16 and familial cancer." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=24375.

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CDKN2A/p16 is a cell cycle inhibitor which blocks abnormal cell growth and proliferation. The CDKN2A gene is frequently mutated or deleted in a wide variety of tumour types. Germline mutations have also been identified in familial atypical multiple mole melanoma (FAMMM) pedigrees. However, the role of CDKN2A in hereditary cancer is uncertain. To explore the relationship between CDKN2A germline mutations and risk of cancer, 75 families with cancers at multiple sites were analysed for germline mutations in the CDKN2A gene. A Met53Ile mutation was found in a non-FAMMM kindred with multiple cancers, including one case of melanoma. The Met53Ile mutation has been previously reported in three Australian FAMMM kindreds. A known Ala148Thr polymorphism was also detected in 5 individuals. No other families were found to have CDKN2A alterations. There were no reported CDKN2A mutations in families without cases of melanoma. Analysis of microsatellite markers adjacent to CDKN2A on chromosome 9p21 revealed that this family shares a common haplotype with one other family with this mutation, suggesting that Met53Ile is a founder mutation. These results suggest that while CDKN2A mutations are not restricted to FAMMM pedigrees, they are very rare or absent in families with individuals without melanoma.

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Книги з теми "Familial cancer genetics"

1

W, Weber, Mulvihill John J. 1943-, and Narod Steven A, eds. Familial cancer management. Boca Raton: CRC Press, 1996.

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2

National Cancer Institute (U.S.) and Community Clinical Oncology Program (National Cancer Institute (U.S.)), eds. Concise handbook of familial cancer susceptibility syndromes. 2nd ed. [Bethesda, Md.]: Oxford University Press, 2008.

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3

M, Lynch Patrick, and Lynch Henry T, eds. Colon cancer genetics. New York: Van Nostrand Reinhold Co., 1985.

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4

1963-, Morrison Patrick J., Hodgson S. V, and Haites Neva E. 1947-, eds. Familial breast and ovarian cancer: Genetics, screening, and management. Cambridge, UK: Cambridge University Press, 2002.

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5

1963-, Morrison Patrick J., Hodgson S. V, and Haites Neva E. 1947-, eds. Familial breast and ovarian cancer: Genetics, screening, and management. Cambridge: Cambridge University Press, 2005.

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6

Hoda, Anton-Guirgis, and Lynch Henry T, eds. Biomarkers, genetics, and cancer. New York: Van Nostrand Reinhold, 1985.

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7

International Research Conference on Familial Cancer (2nd 1995 Basel, Switzerland). Hereditary cancer: Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995. Edited by Müller Hj, Scott R. J, and Weber W. Basel: Karger, 1996.

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8

T, Lynch Henry, and Hirayama Takeshi 1923-, eds. Genetic epidemiology of cancer. Boca Raton, Fla: CRC Press, 1989.

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9

K, Chaganti R. S., and German James, eds. Genetics in clinical oncology. New York: Oxford University Press, 1985.

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10

Joji, Utsunomiya, Mulvihill John J. 1943-, Weber Walter, and International Union against Cancer, eds. Familial cancer and prevention: Molecular epidemiology : a new strategy toward cancer control. New York: Wiley-Liss, 1999.

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Частини книг з теми "Familial cancer genetics"

1

Sanchez, Julian A., Graham Casey, and James M. Church. "Familial Adenomatous Polyposis." In Genetics of Colorectal Cancer, 125–39. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-0-387-09568-4_6.

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2

Lindor, Noralane M. "Familial Colorectal Cancer Type X." In Genetics of Colorectal Cancer, 183–86. New York, NY: Springer New York, 2009. http://dx.doi.org/10.1007/978-0-387-09568-4_9.

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3

Carvajal-Carmona, Luis G., Andrew Silver, and Ian P. Tomlinson. "Molecular Genetics of Familial Adenomatous Polyposis." In Hereditary Colorectal Cancer, 45–66. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-1-4419-6603-2_3.

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4

Clark, Orlo H. "Familial Non Medullary Thyroid Cancer." In The Genetics of Complex Thyroid Diseases, 139–50. Tokyo: Springer Japan, 2002. http://dx.doi.org/10.1007/978-4-431-67885-4_10.

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5

Farrington, Susan M., and Malcolm G. Dunlop. "The genetics of familial colon cancer." In Genetic Predisposition to Cancer, 306–19. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_21.

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6

Chao, Elizabeth D., Michele J. Gabree, and Hensin Tsao. "Familial Atypical Mole Melanoma (FAMM) Syndrome." In Principles of Clinical Cancer Genetics, 129–44. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-0-387-93846-2_10.

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7

Chan-Smutko, Gayun, and Othon Iliopoulos. "Familial Renal Cell Cancers and Pheochromocytomas." In Principles of Clinical Cancer Genetics, 109–28. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-0-387-93846-2_9.

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8

Eisenhofer, Graeme, Christina Pamporaki, Michaela Kuhlen, and Antje Redlich. "Genetics, Biology, Clinical Presentation, Laboratory Diagnostics, and Management of Pediatric and Adolescent Pheochromocytoma and Paraganglioma." In Familial Endocrine Cancer Syndromes, 107–25. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-37275-9_6.

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9

Moraitis, Andreas, and Constantine A. Stratakis. "The Role of Genetics in the Development of Familial Nonmedullary Thyroid Cancer." In Thyroid Cancer, 43–70. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-3314-3_5.

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10

Bauer, Andrew J. "Clinical Behavior and Genetics of Nonsyndromic, Familial Nonmedullary Thyroid Cancer." In Endocrine Tumor Syndromes and Their Genetics, 141–48. Basel: S. KARGER AG, 2013. http://dx.doi.org/10.1159/000345674.

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Тези доповідей конференцій з теми "Familial cancer genetics"

1

Moutinho, Cátia, Ignacio Blanco, Ramon Martinez, and Manel Esteller. "Abstract 1845: Genetic analyses of MGMT in familial gliomas and colorectal cancer." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1845.

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2

Nishimura, Sadaaki. "Abstract 3323: The feasibility for detecting hereditary genetic findings of familial gastric 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.am2019-3323.

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3

Nishimura, Sadaaki. "Abstract 3323: The feasibility for detecting hereditary genetic findings of familial gastric 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.sabcs18-3323.

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4

Schwartz, Ann G. "Abstract IA03: Lung cancer risk in African Americans: Familial aggregation and genetic susceptibility." In Abstracts: Eighth AACR Conference on The Science of Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; November 13-16, 2015; Atlanta, Georgia. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7755.disp15-ia03.

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5

Toledo, Diana M., Susan M. Pinney, Diptasri Mandal, Mariza de Andrade, Elena Kupert, Jennifer Franks, Colette Gaba, et al. "Abstract LB-189: Genetic Epidemiology of Lung Cancer Consortium: genome-wide association study of familial lung cancer cases." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-lb-189.

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6

Yalda, Mayada. "The Ten-Year Survival Rate for Breast Cancer Females in Kurdistan/Iraq: Special Facts and Features." In 3rd Scientific Conference on Women’s Health. Hawler Medical University, 2022. http://dx.doi.org/10.15218/crewh.2022.03.

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Background and objective: Worldwide, breast cancer varies widely in survival rate and age at first diagnosis. Owing to the limited follow up database in developing areas, this study aimed to estimate the 10-years survival rate for breast cancer in Kurdistan/Iraq and correlate it with clinicopathological variables. Methodology: This follow-up study included 160 breast cancer patients diagnosed before 2010. Their data were obtained from Duhok/central lab. Survivors and families of deceased cases were contacted to approve the survivor. Cases were reviewed for variables including estrogen and HER-2 status. Results: The mean age of patients was 44.9 years. Only 66 of them (41.2%) survived for 10-years. None of the survivors was below 30 or above 70 years. Death rate was significantly high between 30-39 years. The survival rate was highest (75.8%) between 40-49 years. The lymph nodes involvement was seen in 61.87% with statistically higher mortality rate. Estrogen was positive in > ¾ of patients (76.9%) which was statistically high among survivors. However, in deceased group estrogen positivity was also high (41.88%), while HER-2 were only significant between 40-49 years. Conclusion: The relatively low survival rate, the young age at first diagnosis, despite the high estrogen receptors positivity are facts can’t be explained by delay treatment and need thorough search for a possible genetic or other underling rezone.

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7

arora, sanjeevani, Hong Yan, Iltaeg Cho, Hua-Ying Fan, Biao Luo, xiaowu gai, dale bodian, et al. "Abstract 4739: Genetic predisposition to DNA double strand break repair defect defines a new class of familial colon cancer." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-4739.

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8

Yu, K., G. Di, and Z. Shao. "Genetic Contribution of GADD45A to Susceptibility to Sporadic and Non-BRCA1/2 Familial Breast Cancers: A Systemic Evaluation in Chinese Populations." In Abstracts: Thirty-Second Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 10‐13, 2009; San Antonio, TX. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-09-5163.

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9

Lee, E.-S., W. Han, Y. Kim, J. Rhu, JH Park, K.-E. Kim, YW Ju, et al. "Abstract P4-06-18: Clinical application of multigene panel testing and genetic counseling for hereditary/familial breast cancer risk assessment: Prospective single center study." 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-p4-06-18.

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10

Saadatmand, S., EA Heijnsdijk, EJ Rutgers, N. Hoogerbrugge, JC Oosterwijk, RA Tollenaar, M. Hooning, I.-M. Obdeijn, HJ de Koning, and MM Tilanus-Linthorst. "Abstract P3-02-09: Cost-effectiveness of screening with additional MRI for women with familial risk for breast cancer without a genetic predisposition." In Abstracts: Thirty-Fifth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 4‐8, 2012; San Antonio, TX. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/0008-5472.sabcs12-p3-02-09.

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Звіти організацій з теми "Familial cancer genetics"

1

King, Mary-Claire, and Warren Winkelstein Jr. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other than BRCA1. Fort Belvoir, VA: Defense Technical Information Center, September 1996. http://dx.doi.org/10.21236/ada328004.

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2

King, Mary-Claire. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other Than BRCAl. Fort Belvoir, VA: Defense Technical Information Center, September 1997. http://dx.doi.org/10.21236/ada346685.

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3

Ahsan, Habibul. CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study. Fort Belvoir, VA: Defense Technical Information Center, October 2007. http://dx.doi.org/10.21236/ada484106.

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4

Goldgar, David E. Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1. Fort Belvoir, VA: Defense Technical Information Center, September 1995. http://dx.doi.org/10.21236/ada301314.

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5

Neuhausen, Susan L. Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1. Fort Belvoir, VA: Defense Technical Information Center, September 1999. http://dx.doi.org/10.21236/ada382834.

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6

Geller, Melissa A., Hee Y. Lee, Kristin Niendorf, Rachel I. Vogel, and Heewon Lee. Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families. Fort Belvoir, VA: Defense Technical Information Center, June 2015. http://dx.doi.org/10.21236/ada621258.

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7

Coyne, James C., and Pamela J. Shapiro. Evaluation of a Peer-Staffed Hotline for Families Who Received Genetic Testing for Risk of Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, August 2004. http://dx.doi.org/10.21236/ada429792.

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