Publications:

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One

Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D

Publication Date: 2023

Variant appearance in text: BRCA1: 4888G>T

PubMed Link: 37310942

Variant Present in the following documents:

• pone.0286998.s001.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 4888G>T; Glu1630Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1173155015

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 4888G>T; Glu1630X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study.

Bmc Cancer

Gross, Eva E; van Tinteren, Harm H; Li, Zhou Z; Raab, Sandra S; Meul, Christina C; Avril, Stefanie S; Laddach, Nadja N; Aubele, Michaela M; Propping, Corinna C; Gkazepis, Apostolos A; Schmitt, Manfred M; Meindl, Alfons A; Nederlof, Petra M PM; Kiechle, Marion M; Lips, Esther H EH

Publication Date: 2016-10-19

Variant appearance in text: BRCA1: E1630X

PubMed Link: 27756336

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2848.pdf

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