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Refinado por: assunto: Genetic Predisposition To Disease remover
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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
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Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

Hu, Chunling ; Hart, Steven N ; Polley, Eric C ; Gnanaolivu, Rohan ; Shimelis, Hermela ; Lee, Kun Y ; Lilyquist, Jenna ; Na, Jie ; Moore, Raymond ; Antwi, Samuel O ; Bamlet, William R ; Chaffee, Kari G ; DiCarlo, John ; Wu, Zhong ; Samara, Raed ; Kasi, Pashtoon M ; McWilliams, Robert R ; Petersen, Gloria M ; Couch, Fergus J

JAMA : the journal of the American Medical Association, 2018-06, Vol.319 (23), p.2401-2409 [Periódico revisado por pares]

United States: American Medical Association

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2
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing
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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

Shimelis, Hermela ; LaDuca, Holly ; Hu, Chunling ; Hart, Steven N ; Na, Jie ; Thomas, Abigail ; Akinhanmi, Margaret ; Moore, Raymond M ; Brauch, Hiltrud ; Cox, Angela ; Eccles, Diana M ; Ewart-Toland, Amanda ; Fasching, Peter A ; Fostira, Florentia ; Garber, Judy ; Godwin, Andrew K ; Konstantopoulou, Irene ; Nevanlinna, Heli ; Sharma, Priyanka ; Yannoukakos, Drakoulis ; Yao, Song ; Feng, Bing-Jian ; Tippin Davis, Brigette ; Lilyquist, Jenna ; Pesaran, Tina ; Goldgar, David E ; Polley, Eric C ; Dolinsky, Jill S ; Couch, Fergus J

JNCI : Journal of the National Cancer Institute, 2018-08, Vol.110 (8), p.855-862 [Periódico revisado por pares]

United States: Oxford University Press

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3
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Maxwell, Kara N. ; Hart, Steven N. ; Vijai, Joseph ; Schrader, Kasmintan A. ; Slavin, Thomas P. ; Thomas, Tinu ; Wubbenhorst, Bradley ; Ravichandran, Vignesh ; Moore, Raymond M. ; Hu, Chunling ; Guidugli, Lucia ; Wenz, Brandon ; Domchek, Susan M. ; Robson, Mark E. ; Szabo, Csilla ; Neuhausen, Susan L. ; Weitzel, Jeffrey N. ; Offit, Kenneth ; Couch, Fergus J. ; Nathanson, Katherine L.

American journal of human genetics, 2016-05, Vol.98 (5), p.801-817 [Periódico revisado por pares]

United States: Elsevier Inc

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4
The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort
The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

Hu, Chunling ; Polley, Eric C ; Yadav, Siddhartha ; Lilyquist, Jenna ; Shimelis, Hermela ; Na, Jie ; Hart, Steven N ; Goldgar, David E ; Shah, Swati ; Pesaran, Tina ; Dolinsky, Jill S ; LaDuca, Holly ; Couch, Fergus J

JNCI : Journal of the National Cancer Institute, 2020-12, Vol.112 (12), p.1231-1241 [Periódico revisado por pares]

United States: Oxford University Press

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5
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

Couch, Fergus J ; Shimelis, Hermela ; Hu, Chunling ; Hart, Steven N ; Polley, Eric C ; Na, Jie ; Hallberg, Emily ; Moore, Raymond ; Thomas, Abigail ; Lilyquist, Jenna ; Feng, Bingjian ; McFarland, Rachel ; Pesaran, Tina ; Huether, Robert ; LaDuca, Holly ; Chao, Elizabeth C ; Goldgar, David E ; Dolinsky, Jill S

JAMA oncology, 2017-09, Vol.3 (9), p.1190-1196 [Periódico revisado por pares]

United States: American Medical Association

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6
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls
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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

Lilyquist, Jenna ; LaDuca, Holly ; Polley, Eric ; Davis, Brigette Tippin ; Shimelis, Hermela ; Hu, Chunling ; Hart, Steven N. ; Dolinsky, Jill S. ; Couch, Fergus J. ; Goldgar, David E.

Gynecologic oncology, 2017-11, Vol.147 (2), p.375-380 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
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Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

Kiiski, Johanna I. ; Pelttari, Liisa M. ; Khan, Sofia ; Freysteinsdottir, Edda S. ; Reynisdottir, Inga ; Hart, Steven N. ; Shimelis, Hermela ; Vilske, Sara ; Kallioniemi, Anne ; Schleutker, Johanna ; Leminen, Arto ; Bützow, Ralf ; Blomqvist, Carl ; Barkardottir, Rosa B. ; Couch, Fergus J. ; Aittomäki, Kristiina ; Nevanlinna, Heli

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (42), p.15172-15177 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

Richardson, Marcy E. ; Hu, Chunling ; Lee, Kun Y. ; LaDuca, Holly ; Fulk, Kelly ; Durda, Kate M. ; Deckman, Ashley M. ; Goldgar, David E. ; Monteiro, Alvaro N.A. ; Gnanaolivu, Rohan ; Hart, Steven N. ; Polley, Eric C. ; Chao, Elizabeth ; Pesaran, Tina ; Couch, Fergus J.

American journal of human genetics, 2021-03, Vol.108 (3), p.458-468 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Hart, Steven N. ; Hoskin, Tanya ; Shimelis, Hermela ; Moore, Raymond M. ; Feng, Bingjian ; Thomas, Abigail ; Lindor, Noralane M. ; Polley, Eric C. ; Goldgar, David E. ; Iversen, Edwin ; Monteiro, Alvaro N.A. ; Suman, Vera J. ; Couch, Fergus J.

Genetics in medicine, 2019-01, Vol.21 (1), p.71-80 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients
Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients
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Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients

Hu, Chunling ; Hart, Steven N ; Bamlet, William R ; Moore, Raymond M ; Nandakumar, Kannabiran ; Eckloff, Bruce W ; Lee, Yean K ; Petersen, Gloria M ; McWilliams, Robert R ; Couch, Fergus J

Cancer epidemiology, biomarkers & prevention, 2016-01, Vol.25 (1), p.207-211 [Periódico revisado por pares]

United States

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