Trend-TDT – a transmission/disequilibrium based association test on functional mini/microsatellites

por Feng, Bing-Jian, Goldgar, David E, Corbex, Marilys
Publicado 2007

Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

por Feng, Bing-Jian, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
Publicado 2011

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMB...

por Chenevix-Trench, Georgia, Milne, Roger L, Antoniou, Antonis C, Couch, Fergus J, Easton, Douglas F, Goldgar, David E
Publicado 2007

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

por Flower, Kirsty J, Shenker, Natalie S, El-Bahrawy, Mona, Goldgar, David E, Parsons, Michael T, Spurdle, Amanda B, Morris, Joanna R, Brown, Robert, Flanagan, James M
Publicado 2016

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

por Tessereau, Chloé, Lesecque, Yann, Monnet, Nastasia, Buisson, Monique, Barjhoux, Laure, Léoné, Mélanie, Feng, Bingjian, Goldgar, David E., Sinilnikova, Olga M., Mousset, Sylvain, Duret, Laurent, Mazoyer, Sylvie
Publicado 2014

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

por Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Publicado 2014

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

por Pritzlaff, Mary, Summerour, Pia, McFarland, Rachel, Li, Shuwei, Reineke, Patrick, Dolinsky, Jill S., Goldgar, David E., Shimelis, Hermela, Couch, Fergus J., Chao, Elizabeth C., LaDuca, Holly
Publicado 2016

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance

por Woods, Nicholas T, Baskin, Rebekah, Golubeva, Volha, Jhuraney, Ankita, De-Gregoriis, Giuliana, Vaclova, Tereza, Goldgar, David E, Couch, Fergus J, Carvalho, Marcelo Alex, Iversen, Edwin S, Monteiro, Alvaro NA
Publicado 2016

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

por Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Publicado 2013

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

por Thouvenot, Pierre, Ben Yamin, Barbara, Fourrière, Lou, Lescure, Aurianne, Boudier, Thomas, Del Nery, Elaine, Chauchereau, Anne, Goldgar, David E., Houdayer, Claude, Stoppa-Lyonnet, Dominique, Nicolas, Alain, Millot, Gaël A.
Publicado 2016

Heritable DNA methylation marks associated with susceptibility to breast cancer

por Joo, Jihoon E., Dowty, James G., Milne, Roger L., Wong, Ee Ming, Dugué, Pierre-Antoine, English, Dallas, Hopper, John L., Goldgar, David E., Giles, Graham G., Southey, Melissa C.
Publicado 2018

Mutation prevalence tables for hereditary cancer derived from multigene panel testing

por Hart, Steven N., Polley, Eric C., Yussuf, Amal, Yadav, Siddhartha, Goldgar, David E., Hu, Chunling, LaDuca, Holly, Smith, Laura P., Fujimoto, June, Li, Shuwei, Couch, Fergus J., Dolinsky, Jill S.
Publicado 2020

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India

por Saxena, Sunita, Chakraborty, Anurupa, Kaushal, Mishi, Kotwal, Sanjeev, Bhatanager, Dinesh, Mohil, Ravindar S, Chintamani, Chintamani, Aggarwal, Anil K, Sharma, Veena K, Sharma, Prakash C, Lenoir, Gilbert, Goldgar, David E, Szabo, Csilla I
Publicado 2006

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

por Teo, Zhi L, Park, Daniel J, Provenzano, Elena, Chatfield, Catherine A, Odefrey, Fabrice A, Nguyen-Dumont, Tu, Dowty, James G, Hopper, John L, Winship, Ingrid, Goldgar, David E, Southey, Melissa C
Publicado 2013

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

por 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
Publicado 2020

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

por Vallée, Maxime P., Di Sera, Tonya L., Nix, David A., Paquette, Andrew M., Parsons, Michael T., Bell, Russel, Hoffman, Andrea, Hogervorst, Frans B. L., Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Publicado 2016

Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC)

por Terry, Mary Beth, Phillips, Kelly-Anne, Daly, Mary B, John, Esther M, Andrulis, Irene L, Buys, Saundra S, Goldgar, David E, Knight, Julia A, Whittemore, Alice S, Chung, Wendy K, Apicella, Carmel, Hopper, John L
Publicado 2016

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel te...

por Li, Hongyan, LaDuca, Holly, Pesaran, Tina, Chao, Elizabeth C., Dolinsky, Jill S., Parsons, Michael, Spurdle, Amanda B., Polley, Eric C., Shimelis, Hermela, Hart, Steven N., Hu, Chunling, Couch, Fergus J., Goldgar, David E.
Publicado 2019

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

por 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.
Publicado 2018

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

por Iversen, Edwin S., Lipton, Gary, Hart, Steven N., Lee, Kun Y., Hu, Chunling, Polley, Eric C., Pesaran, Tina, Yussuf, Amal, LaDuca, Holly, Chao, Elizabeth, Karam, Rachid, Goldgar, David E., Couch, Fergus J., Monteiro, Alvaro N. A.
Publicado 2022