Literatura académica sobre el tema "Familial cancer genetics"
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Artículos de revistas sobre el tema "Familial cancer genetics"
Harnden, D. G. "Familial Cancer". Journal of Medical Genetics 24, n.º 3 (1 de marzo de 1987): 190. http://dx.doi.org/10.1136/jmg.24.3.190.
Texto completoHemminki, K. "622 Genetics of familial cancer". European Journal of Cancer Supplements 8, n.º 5 (junio de 2010): 158–59. http://dx.doi.org/10.1016/s1359-6349(10)71423-3.
Texto completoYu, Hongyao y Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers". Mutagenesis 35, n.º 3 (19 de agosto de 2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.
Texto completoEccles, D. M. "Familial Cancer Management". Journal of Medical Genetics 34, n.º 4 (1 de abril de 1997): 351. http://dx.doi.org/10.1136/jmg.34.4.351.
Texto completoPeters, Niamh, Sinead King, Emily O'Donovan, David James Gallagher y John V. Reynolds. "Oesophageal cancer: Commonly familial, possibly heritable." Journal of Clinical Oncology 35, n.º 4_suppl (1 de febrero de 2017): 23. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.23.
Texto completoRogers, Carmelle D., Michiel S. van der Heijden, Kieran Brune, Charles J. Yeo, Ralph H. Hruban, Scott E. Kern y Michael Goggins. "The Genetics ofFANCCandFANCGin Familial Pancreatic Cancer". Cancer Biology & Therapy 3, n.º 2 (2 de febrero de 2004): 167–69. http://dx.doi.org/10.4161/cbt.3.2.609.
Texto completoCavenee, W. K. y M. F. Hansen. "Molecular Genetics of Human Familial Cancer". Cold Spring Harbor Symposia on Quantitative Biology 51 (1 de enero de 1986): 829–35. http://dx.doi.org/10.1101/sqb.1986.051.01.096.
Texto completoRieder, Harald y Detlef K. Bartsch. "Familial Pancreatic Cancer". Familial Cancer 3, n.º 1 (2002): 69–74. http://dx.doi.org/10.1023/b:fame.0000026822.67291.a1.
Texto completoBarrisford, Glen W., Eric A. Singer, Inger L. Rosner, W. Marston Linehan y 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.
Texto completoSukumaran, Shobini y Kunal Chawathey. "Familial breast cancer". InnovAiT: Education and inspiration for general practice 10, n.º 2 (27 de diciembre de 2016): 82–88. http://dx.doi.org/10.1177/1755738016685893.
Texto completoTesis sobre el tema "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.
Texto completoHenry, 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.
Texto completoRattenberry, 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/.
Texto completoNaicker, 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.
Texto completoNaicker, 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.
Texto completoKechik, Joy E. "Comparing Family Sharing Behaviors in BRCA Carriers with PALB2 Carriers". Scholar Commons, 2019. https://scholarcommons.usf.edu/etd/7825.
Texto completode, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin". Thesis, The University of Sydney, 2008. http://hdl.handle.net/2123/3878.
Texto completode, Zwaan Sally Elizabeth. "The Genetics of Basal Cell Carcinoma of the Skin". University of Sydney, 2008. http://hdl.handle.net/2123/3878.
Texto completoBCC 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.
Texto completoEl 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.
Texto completoLibros sobre el tema "Familial cancer genetics"
W, Weber, Mulvihill John J. 1943- y Narod Steven A, eds. Familial cancer management. Boca Raton: CRC Press, 1996.
Buscar texto completoNational Cancer Institute (U.S.) y Community Clinical Oncology Program (National Cancer Institute (U.S.)), eds. Concise handbook of familial cancer susceptibility syndromes. 2a ed. [Bethesda, Md.]: Oxford University Press, 2008.
Buscar texto completoM, Lynch Patrick y Lynch Henry T, eds. Colon cancer genetics. New York: Van Nostrand Reinhold Co., 1985.
Buscar texto completo1963-, Morrison Patrick J., Hodgson S. V y Haites Neva E. 1947-, eds. Familial breast and ovarian cancer: Genetics, screening, and management. Cambridge, UK: Cambridge University Press, 2002.
Buscar texto completo1963-, Morrison Patrick J., Hodgson S. V y Haites Neva E. 1947-, eds. Familial breast and ovarian cancer: Genetics, screening, and management. Cambridge: Cambridge University Press, 2005.
Buscar texto completoHoda, Anton-Guirgis y Lynch Henry T, eds. Biomarkers, genetics, and cancer. New York: Van Nostrand Reinhold, 1985.
Buscar texto completoInternational Research Conference on Familial Cancer (2nd 1995 Basel, Switzerland). Hereditary cancer: Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995. Editado por Müller Hj, Scott R. J y Weber W. Basel: Karger, 1996.
Buscar texto completoT, Lynch Henry y Hirayama Takeshi 1923-, eds. Genetic epidemiology of cancer. Boca Raton, Fla: CRC Press, 1989.
Buscar texto completoK, Chaganti R. S. y German James, eds. Genetics in clinical oncology. New York: Oxford University Press, 1985.
Buscar texto completoJoji, Utsunomiya, Mulvihill John J. 1943-, Weber Walter y International Union against Cancer, eds. Familial cancer and prevention: Molecular epidemiology : a new strategy toward cancer control. New York: Wiley-Liss, 1999.
Buscar texto completoCapítulos de libros sobre el tema "Familial cancer genetics"
Sanchez, Julian A., Graham Casey y James M. Church. "Familial Adenomatous Polyposis". En 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.
Texto completoLindor, Noralane M. "Familial Colorectal Cancer Type X". En 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.
Texto completoCarvajal-Carmona, Luis G., Andrew Silver y Ian P. Tomlinson. "Molecular Genetics of Familial Adenomatous Polyposis". En Hereditary Colorectal Cancer, 45–66. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-1-4419-6603-2_3.
Texto completoClark, Orlo H. "Familial Non Medullary Thyroid Cancer". En The Genetics of Complex Thyroid Diseases, 139–50. Tokyo: Springer Japan, 2002. http://dx.doi.org/10.1007/978-4-431-67885-4_10.
Texto completoFarrington, Susan M. y Malcolm G. Dunlop. "The genetics of familial colon cancer". En Genetic Predisposition to Cancer, 306–19. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_21.
Texto completoChao, Elizabeth D., Michele J. Gabree y Hensin Tsao. "Familial Atypical Mole Melanoma (FAMM) Syndrome". En Principles of Clinical Cancer Genetics, 129–44. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-0-387-93846-2_10.
Texto completoChan-Smutko, Gayun y Othon Iliopoulos. "Familial Renal Cell Cancers and Pheochromocytomas". En Principles of Clinical Cancer Genetics, 109–28. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-0-387-93846-2_9.
Texto completoEisenhofer, Graeme, Christina Pamporaki, Michaela Kuhlen y Antje Redlich. "Genetics, Biology, Clinical Presentation, Laboratory Diagnostics, and Management of Pediatric and Adolescent Pheochromocytoma and Paraganglioma". En Familial Endocrine Cancer Syndromes, 107–25. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-37275-9_6.
Texto completoMoraitis, Andreas y Constantine A. Stratakis. "The Role of Genetics in the Development of Familial Nonmedullary Thyroid Cancer". En Thyroid Cancer, 43–70. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-3314-3_5.
Texto completoBauer, Andrew J. "Clinical Behavior and Genetics of Nonsyndromic, Familial Nonmedullary Thyroid Cancer". En Endocrine Tumor Syndromes and Their Genetics, 141–48. Basel: S. KARGER AG, 2013. http://dx.doi.org/10.1159/000345674.
Texto completoActas de conferencias sobre el tema "Familial cancer genetics"
Moutinho, Cátia, Ignacio Blanco, Ramon Martinez y Manel Esteller. "Abstract 1845: Genetic analyses of MGMT in familial gliomas and colorectal cancer". En 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.
Texto completoNishimura, Sadaaki. "Abstract 3323: The feasibility for detecting hereditary genetic findings of familial gastric cancer". En 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.
Texto completoNishimura, Sadaaki. "Abstract 3323: The feasibility for detecting hereditary genetic findings of familial gastric cancer". En 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.
Texto completoSchwartz, Ann G. "Abstract IA03: Lung cancer risk in African Americans: Familial aggregation and genetic susceptibility". En 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.
Texto completoToledo, 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". En 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.
Texto completoYalda, Mayada. "The Ten-Year Survival Rate for Breast Cancer Females in Kurdistan/Iraq: Special Facts and Features". En 3rd Scientific Conference on Women’s Health. Hawler Medical University, 2022. http://dx.doi.org/10.15218/crewh.2022.03.
Texto completoarora, 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". En 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.
Texto completoYu, K., G. Di y Z. Shao. "Genetic Contribution of GADD45A to Susceptibility to Sporadic and Non-BRCA1/2 Familial Breast Cancers: A Systemic Evaluation in Chinese Populations." En 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.
Texto completoLee, 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". En 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.
Texto completoSaadatmand, S., EA Heijnsdijk, EJ Rutgers, N. Hoogerbrugge, JC Oosterwijk, RA Tollenaar, M. Hooning, I.-M. Obdeijn, HJ de Koning y 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". En 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.
Texto completoInformes sobre el tema "Familial cancer genetics"
King, Mary-Claire y Warren Winkelstein Jr. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other than BRCA1. Fort Belvoir, VA: Defense Technical Information Center, septiembre de 1996. http://dx.doi.org/10.21236/ada328004.
Texto completoKing, Mary-Claire. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other Than BRCAl. Fort Belvoir, VA: Defense Technical Information Center, septiembre de 1997. http://dx.doi.org/10.21236/ada346685.
Texto completoAhsan, Habibul. CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study. Fort Belvoir, VA: Defense Technical Information Center, octubre de 2007. http://dx.doi.org/10.21236/ada484106.
Texto completoGoldgar, 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, septiembre de 1995. http://dx.doi.org/10.21236/ada301314.
Texto completoNeuhausen, 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, septiembre de 1999. http://dx.doi.org/10.21236/ada382834.
Texto completoGeller, Melissa A., Hee Y. Lee, Kristin Niendorf, Rachel I. Vogel y Heewon Lee. Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families. Fort Belvoir, VA: Defense Technical Information Center, junio de 2015. http://dx.doi.org/10.21236/ada621258.
Texto completoCoyne, James C. y 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, agosto de 2004. http://dx.doi.org/10.21236/ada429792.
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