Publications:

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 4030_4035delinsC

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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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: BRCA2: 4030_4036delAATGATAinsCA

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, sheet 1

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Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer

Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI

Publication Date: 2018-10

Variant appearance in text: BRCA2: 4030_4035delinsC

PubMed Link: 28918466

Variant Present in the following documents:

• Main text

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