Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer

por Peterlongo, Paolo, Figlioli, Gisella, Deans, Andrew J., Couch, Fergus J.
Publicado 2021

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

por Hart, Steven N., Polley, Eric C., Shimelis, Hermella, Yadav, Siddhartha, Couch, Fergus J.
Publicado 2020

A preliminary investigation of genetic counselors’ information needs when receiving a variant of uncertain significance result: a mixed methods study

por Scherr, Courtney L., Lindor, Noralane M., Malo, Teri L., Couch, Fergus J., Vadaparampil, Susan T.
Publicado 2015

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

por Catucci, Irene, Radice, Paolo, Milne, Roger L., Couch, Fergus J., Southey, Melissa C., Peterlongo, Paolo
Publicado 2016

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

SoftSearch: Integration of Multiple Sequence Features to Identify Breakpoints of Structural Variations

por Hart, Steven N., Sarangi, Vivekananda, Moore, Raymond, Baheti, Saurabh, Bhavsar, Jaysheel D., Couch, Fergus J., Kocher, Jean-Pierre A.
Publicado 2013

N-Terminal Pro Brain Natriuretic Peptide, sST2, and Galectin-3 Levels in Breast Cancer Survivors

por Patel, Shruti Rajesh, Herrmann, Joerg, Vierkant, Robert A., Olson, Janet E., Couch, Fergus J., Hazim, Antonious, Sloan, Jeff A., Loprinzi, Charles L., Ruddy, Kathryn J.
Publicado 2021

No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer

por Goode, Ellen L, Szabo, Csilla, Prokunina-Olsson, Ludmila, Vierkant, Robert A, Fredericksen, Zachary S, Collins, Francis S, White, Kristin L, Schmidt, Michele, Fridley, Brooke L, Couch, Fergus J
Publicado 2009

A Genome Wide Meta-Analysis Study for Identification of Common Variation Associated with Breast Cancer Prognosis

por Rafiq, Sajjad, Khan, Sofia, Tapper, William, Collins, Andrew, Upstill-Goddard, Rosanna, Gerty, Susan, Blomqvist, Carl, Aittomäki, Kristiina, Couch, Fergus J., Liu, Jianjun, Nevanlinna, Heli, Eccles, Diana
Publicado 2014

Real-World Experiences With Yoga on Cancer-Related Symptoms in Women With Breast Cancer

por Patel, Shruti R, Zayas, Jacqueline, Medina-Inojosa, Jose R, Loprinzi, Charles, Cathcart-Rake, Elizabeth J, Bhagra, Anjali, Olson, Janet E, Couch, Fergus J, Ruddy, Kathryn J
Publicado 2021

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

Linkage analysis of obesity phenotypes in pre- and post-menopausal women from a United States mid-western population

por Kelemen, Linda E, Atkinson, Elizabeth J, de Andrade, Mariza, Pankratz, V Shane, Cunningham, Julie M, Wang, Alice, Hilker, Christopher A, Couch, Fergus J, Sellers, Thomas A, Vachon, Celine M
Publicado 2010

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

Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer

por Li, Jingmei, Eriksson, Louise, Humphreys, Keith, Czene, Kamila, Liu, Jianjun, Tamimi, Rulla M, Lindström, Sara, Hunter, David J, Vachon, Celine M, Couch, Fergus J, Scott, Christopher G, Lagiou, Pagona, Hall, Per
Publicado 2010

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

por Balmaña, Judith, Digiovanni, Laura, Gaddam, Pragna, Walsh, Michael F., Joseph, Vijai, Stadler, Zsofia K., Nathanson, Katherine L., Garber, Judy E., Couch, Fergus J., Offit, Kenneth, Robson, Mark E., Domchek, Susan M.
Publicado 2016

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

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

por Xu, Jingying, Margol, Ashley Sloane, Shukla, Anju, Ren, Xiuhai, Finlay, Jonathan L., Krieger, Mark D., Gilles, Floyd H., Couch, Fergus J., Aziz, Meraj, Fung, Eric T., Asgharzadeh, Shahab, Barrett, Michael T., Erdreich-Epstein, Anat
Publicado 2015

Molecular markers of risk of subsequent invasive breast cancer in women with ductal carcinoma in situ: protocol for a population-based cohort study

por Rohan, Thomas E, Ginsberg, Mindy, Wang, Yihong, Couch, Fergus J, Feigelson, Heather S, Greenlee, Robert T, Honda, Stacey, Stark, Azadeh, Chitale, Dhananjay, Wang, Tao, Xue, Xiaonan, Oktay, Maja H, Sparano, Joseph A, Loudig, Olivier
Publicado 2021

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

por Nepomuceno, Thales C., dos Santos, Ana P. P., Fernandes, Vanessa C., Elias, Anna B. R., Gomes, Thiago T., Suarez-Kurtz, Guilherme, Iversen, Edwin S., Couch, Fergus J., Monteiro, Alvaro N. A., Carvalho, Marcelo A.
Publicado 2022