Publications:

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: K2162N

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer.

Obstetrics & Gynecology Science

Kalachand, Roshni D RD; O'Riain, Ciaran C; Toomey, Sinead S; Carr, Aoife A; Timms, Kirsten M KM; O'Toole, Sharon S; Madden, Stephen S; Bates, Mark M; O'Leary, John J JJ; Gleeson, Noreen N; O'Donnell, Dearbhaile D; Grogan, Liam L; Breathnach, Oscar O; Farrelly, Angela A; Stordal, Britta B; Hennessy, Bryan T BT

Publication Date: 2020-09

Variant appearance in text: BRCA2: Lys2162Asn

PubMed Link: 32872764

Variant Present in the following documents:

• Main text

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Patterns and Prevalence of Germline BRCA1 and BRCA2 Mutations among High-Risk Breast Cancer Patients in Jordan: A Study of 500 Patients.

Journal Of Oncology

Abdel-Razeq, Hikmat H; Abujamous, Lama L; Jadaan, Dima D

Publication Date: 2020

Variant appearance in text: BRCA2: Lys2162Asn

PubMed Link: 32733560

Variant Present in the following documents:

• Main text
• JO2020-8362179.pdf

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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: BRCA2: 6486A>T; Lys2162Asn

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: K2162N

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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