Academic literature on the topic 'Familial cancer genetics'
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Journal articles on the topic "Familial cancer genetics"
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.
Full textHemminki, 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.
Full textYu, 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.
Full textEccles, 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.
Full textPeters, 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.
Full textRogers, 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.
Full textCavenee, 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.
Full textRieder, 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.
Full textBarrisford, 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.
Full textSukumaran, 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.
Full textDissertations / Theses on the topic "Familial cancer genetics"
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.
Full textHenry, 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.
Full textRattenberry, 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/.
Full textNaicker, 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.
Full textNaicker, 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.
Full textKechik, Joy E. "Comparing Family Sharing Behaviors in BRCA Carriers with PALB2 Carriers." Scholar Commons, 2019. https://scholarcommons.usf.edu/etd/7825.
Full textde, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." Thesis, The University of Sydney, 2008. http://hdl.handle.net/2123/3878.
Full textde, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin." University of Sydney, 2008. http://hdl.handle.net/2123/3878.
Full textBCC 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.
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.
Full textEl 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.
Sun, Sophie. "CDKN2Ap16 and familial cancer." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=24375.
Full textBooks on the topic "Familial cancer genetics"
W, Weber, Mulvihill John J. 1943-, and Narod Steven A, eds. Familial cancer management. Boca Raton: CRC Press, 1996.
Find full textNational 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.
Find full textM, Lynch Patrick, and Lynch Henry T, eds. Colon cancer genetics. New York: Van Nostrand Reinhold Co., 1985.
Find full text1963-, 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.
Find full text1963-, 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.
Find full textHoda, Anton-Guirgis, and Lynch Henry T, eds. Biomarkers, genetics, and cancer. New York: Van Nostrand Reinhold, 1985.
Find full textInternational 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.
Find full textT, Lynch Henry, and Hirayama Takeshi 1923-, eds. Genetic epidemiology of cancer. Boca Raton, Fla: CRC Press, 1989.
Find full textK, Chaganti R. S., and German James, eds. Genetics in clinical oncology. New York: Oxford University Press, 1985.
Find full textJoji, 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.
Find full textBook chapters on the topic "Familial cancer genetics"
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.
Full textLindor, 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.
Full textCarvajal-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.
Full textClark, 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.
Full textFarrington, 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.
Full textChao, 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.
Full textChan-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.
Full textEisenhofer, 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.
Full textMoraitis, 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.
Full textBauer, 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.
Full textConference papers on the topic "Familial cancer genetics"
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.
Full textNishimura, 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.
Full textNishimura, 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.
Full textSchwartz, 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.
Full textToledo, 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.
Full textYalda, 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.
Full textarora, 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.
Full textYu, 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.
Full textLee, 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.
Full textSaadatmand, 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.
Full textReports on the topic "Familial cancer genetics"
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.
Full textKing, 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.
Full textAhsan, 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.
Full textGoldgar, 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.
Full textNeuhausen, 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.
Full textGeller, 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.
Full textCoyne, 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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