The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Familial breast cancer: Pinning down susceptibility genes beyond BRCA Women with the heritable form of breast cancer often harbor mutations in cancer-linked genes other than the usual suspects, BRCA1 and BRCA2. Slavin, Maxwell, Lilyquist, Joseph, and colleagues from major national and international...

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Autores principales:	Thomas P. Slavin, Kara N. Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L. Neuhausen, Steven N. Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A. Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M. Wenz, Kurt D’Andrea, Mark E. Robson, Paolo Peterlongo, Bernardo Bonanni, James M. Ford, Judy E. Garber, Susan M. Domchek, Csilla Szabo, Kenneth Offit, Katherine L. Nathanson, Jeffrey N. Weitzel, Fergus J. Couch
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/22db8878f67d44d09b2b4f5b6bb65e1c
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spelling	oai:doaj.org-article:22db8878f67d44d09b2b4f5b6bb65e1c2021-12-02T16:19:32ZThe contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk10.1038/s41523-017-0024-82374-4677https://doaj.org/article/22db8878f67d44d09b2b4f5b6bb65e1c2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41523-017-0024-8https://doaj.org/toc/2374-4677Familial breast cancer: Pinning down susceptibility genes beyond BRCA Women with the heritable form of breast cancer often harbor mutations in cancer-linked genes other than the usual suspects, BRCA1 and BRCA2. Slavin, Maxwell, Lilyquist, Joseph, and colleagues from major national and international cancer centers studied 2134 women with familial breast cancer who tested negative for BRCA1/2 gene mutations. The researchers sequenced 26 known or proposed breast cancer susceptibility genes and found mutations in approximately 1 in every 12 of the study subjects. They then further broke down the susceptibility genes into those that confer high-, moderate- or low-risk—although not all the proposed breast cancer genes reached statistical significance and, as such, their clinical importance remains unclear. The results support adding some of the high- and moderate-risk genes to multi-panel diagnostic tests that aim to determine the likelihood of a women developing heritable breast cancer.Thomas P. SlavinKara N. MaxwellJenna LilyquistJoseph VijaiSusan L. NeuhausenSteven N. HartVignesh RavichandranTinu ThomasAnn MariaDanylo VillanoKasmintan A. SchraderRaymond MooreChunling HuBradley WubbenhorstBrandon M. WenzKurt D’AndreaMark E. RobsonPaolo PeterlongoBernardo BonanniJames M. FordJudy E. GarberSusan M. DomchekCsilla SzaboKenneth OffitKatherine L. NathansonJeffrey N. WeitzelFergus J. CouchNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 3, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Thomas P. Slavin Kara N. Maxwell Jenna Lilyquist Joseph Vijai Susan L. Neuhausen Steven N. Hart Vignesh Ravichandran Tinu Thomas Ann Maria Danylo Villano Kasmintan A. Schrader Raymond Moore Chunling Hu Bradley Wubbenhorst Brandon M. Wenz Kurt D’Andrea Mark E. Robson Paolo Peterlongo Bernardo Bonanni James M. Ford Judy E. Garber Susan M. Domchek Csilla Szabo Kenneth Offit Katherine L. Nathanson Jeffrey N. Weitzel Fergus J. Couch The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
description	Familial breast cancer: Pinning down susceptibility genes beyond BRCA Women with the heritable form of breast cancer often harbor mutations in cancer-linked genes other than the usual suspects, BRCA1 and BRCA2. Slavin, Maxwell, Lilyquist, Joseph, and colleagues from major national and international cancer centers studied 2134 women with familial breast cancer who tested negative for BRCA1/2 gene mutations. The researchers sequenced 26 known or proposed breast cancer susceptibility genes and found mutations in approximately 1 in every 12 of the study subjects. They then further broke down the susceptibility genes into those that confer high-, moderate- or low-risk—although not all the proposed breast cancer genes reached statistical significance and, as such, their clinical importance remains unclear. The results support adding some of the high- and moderate-risk genes to multi-panel diagnostic tests that aim to determine the likelihood of a women developing heritable breast cancer.
format	article
author	Thomas P. Slavin Kara N. Maxwell Jenna Lilyquist Joseph Vijai Susan L. Neuhausen Steven N. Hart Vignesh Ravichandran Tinu Thomas Ann Maria Danylo Villano Kasmintan A. Schrader Raymond Moore Chunling Hu Bradley Wubbenhorst Brandon M. Wenz Kurt D’Andrea Mark E. Robson Paolo Peterlongo Bernardo Bonanni James M. Ford Judy E. Garber Susan M. Domchek Csilla Szabo Kenneth Offit Katherine L. Nathanson Jeffrey N. Weitzel Fergus J. Couch
author_facet	Thomas P. Slavin Kara N. Maxwell Jenna Lilyquist Joseph Vijai Susan L. Neuhausen Steven N. Hart Vignesh Ravichandran Tinu Thomas Ann Maria Danylo Villano Kasmintan A. Schrader Raymond Moore Chunling Hu Bradley Wubbenhorst Brandon M. Wenz Kurt D’Andrea Mark E. Robson Paolo Peterlongo Bernardo Bonanni James M. Ford Judy E. Garber Susan M. Domchek Csilla Szabo Kenneth Offit Katherine L. Nathanson Jeffrey N. Weitzel Fergus J. Couch
author_sort	Thomas P. Slavin
title	The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
title_short	The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
title_full	The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
title_fullStr	The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
title_full_unstemmed	The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
title_sort	contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/22db8878f67d44d09b2b4f5b6bb65e1c
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The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

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