Publications:

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 testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA1: N13del

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_ESM.xls, sheet 1

View BVdb publication page

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zhen, David B DB; Rabe, Kari G KG; Gallinger, Steven S; Syngal, Sapna S; Schwartz, Ann G AG; Goggins, Michael G MG; Hruban, Ralph H RH; Cote, Michele L ML; McWilliams, Robert R RR; Roberts, Nicholas J NJ; Cannon-Albright, Lisa A LA; Li, Donghui D; Moyes, Kelsey K; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Seminara, Daniela D; Klein, Alison P AP; Petersen, Gloria M GM

Publication Date: 2015-07

Variant appearance in text: BRCA1: n13del

PubMed Link: 25356972

Variant Present in the following documents:

• Main text
• nihms632415.pdf

View BVdb publication page

Prevalence of BRCA1 and BRCA2 mutations in women with breast carcinoma In Situ and referred for genetic testing.

Cancer Prevention Research (Philadelphia, Pa.)

Hall, Michael J MJ; Reid, Julia E JE; Wenstrup, Richard J RJ

Publication Date: 2010-12

Variant appearance in text: BRCA1: n13del

PubMed Link: 21149333

Variant Present in the following documents:

• Main text

View BVdb publication page

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Cancer

Hall, Michael J MJ; Reid, Julia E JE; Burbidge, Lynn A LA; Pruss, Dmitry D; Deffenbaugh, Amie M AM; Frye, Cynthia C; Wenstrup, Richard J RJ; Ward, Brian E BE; Scholl, Thomas A TA; Noll, Walter W WW

Publication Date: 2009-05-15

Variant appearance in text: BRCA1: n13del

PubMed Link: 19241424

Variant Present in the following documents:

• Main text

View BVdb publication page