Publications:

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: rs138608489

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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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: BRCA1: E1490K

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-Related Cancer

Venizelos, Andreas A; Elvebakken, Hege H; Perren, Aurel A; Nikolaienko, Oleksii O; Deng, Wei W; Lothe, Inger Marie B IMB; Couvelard, Anne A; Hjortland, Geir Olav GO; Sundlöv, Anna A; Svensson, Johanna J; Garresori, Harrish H; Kersten, Christian C; Hofsli, Eva E; Detlefsen, Sönke S; Krogh, Merete M; Sorbye, Halfdan H; Knappskog, Stian S

Publication Date: 2021-11-11

Variant appearance in text: BRCA1: E1490K

PubMed Link: 34647903

Variant Present in the following documents:

• supplementary_table_4.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: 4468G>A; Glu1490Lys

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: BRCA1: E1490K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page