Publications:

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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: rs1064793062

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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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: BRCA2: T441I

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer.

Nature Genetics

Lips, Esther H EH; Kumar, Tapsi T; Megalios, Anargyros A; Visser, Lindy L LL; Sheinman, Michael M; Fortunato, Angelo A; Shah, Vandna V; Hoogstraat, Marlous M; Sei, Emi E; Mallo, Diego D; Roman-Escorza, Maria M; Ahmed, Ahmed A AA; Xu, Mingchu M; van den Belt-Dusebout, Alexandra W AW; Brugman, Wim W; Casasent, Anna K AK; Clements, Karen K; Davies, Helen R HR; Fu, Liping L; Grigoriadis, Anita A; Hardman, Timothy M TM; King, Lorraine M LM; Krete, Marielle M; Kristel, Petra P; de Maaker, Michiel M; Maley, Carlo C CC; Marks, Jeffrey R JR; Menegaz, Brian A BA; Mulder, Lennart L; Nieboer, Frank F; Nowinski, Salpie S; Pinder, Sarah S; Quist, Jelmar J; Salinas-Souza, Carolina C; Schaapveld, Michael M; Schmidt, Marjanka K MK; Shaaban, Abeer M AM; Shami, Rana R; Sridharan, Mathini M; Zhang, John J; Stobart, Hilary H; Collyar, Deborah D; Nik-Zainal, Serena S; Wessels, Lodewyk F A LFA; Hwang, E Shelley ES; Navin, Nicholas E NE; Futreal, P Andrew PA; , ; Thompson, Alastair M AM; Wesseling, Jelle J; Sawyer, Elinor J EJ

Publication Date: 2022-06

Variant appearance in text: BRCA2: T441I; rs1064793062

PubMed Link: 35681052

Variant Present in the following documents:

• 41588_2022_1082_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 1322C>T; T441I

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers

Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 1322C>T; Thr441Ile; rs1064793062

PubMed Link: 32438681

Variant Present in the following documents:

• Main text
• cancers-12-01286.pdf

View BVdb publication page

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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: 1322C>T; Thr441Ile

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

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

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 1322C>T; Thr441Ile; rs1064793062

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: T441I

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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