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: rs1318579197

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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Hereditary Diffuse Gastric Cancer: A 2022 Update.

Journal Of Personalized Medicine

Kole, Christo C; Charalampakis, Nikolaos N; Sakellariou, Stratigoula S; Papaxoinis, George G; Apostolou, Konstantinos G KG; Machairas, Nikolaos N; Papanikolaou, Ioannis S IS; Schizas, Dimitrios D

Publication Date: 2022-12-08

Variant appearance in text: BRCA2: F354L

PubMed Link: 36556253

Variant Present in the following documents:

• jpm-12-02032.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: BRCA2: F354L; rs1318579197

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: F354L

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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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: F354L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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: 1060T>C; Phe354Leu

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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Tumorigenicity-associated characteristics of human iPS cell lines.

Plos One

Yasuda, Satoshi S; Kusakawa, Shinji S; Kuroda, Takuya T; Miura, Takumi T; Tano, Keiko K; Takada, Nozomi N; Matsuyama, Satoko S; Matsuyama, Akifumi A; Nasu, Michiyo M; Umezawa, Akihiro A; Hayakawa, Takao T; Tsutsumi, Hideki H; Sato, Yoji Y

Publication Date: 2018

Variant appearance in text: BRCA2: F354L

PubMed Link: 30286143

Variant Present in the following documents:

• pone.0205022.s006.xlsx, sheet 1
• pone.0205022.s007.xlsx, sheet 1

View BVdb publication page

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Rucaparib Monotherapy in Patients With Pancreatic Cancer and a Known Deleterious BRCA Mutation.

Jco Precision Oncology

Shroff, Rachna T RT; Hendifar, Andrew A; McWilliams, Robert R RR; Geva, Ravit R; Epelbaum, Ron R; Rolfe, Lindsey L; Goble, Sandra S; Lin, Kevin K KK; Biankin, Andrew V AV; Giordano, Heidi H; Vonderheide, Robert H RH; Domchek, Susan M SM

Publication Date: 2018

Variant appearance in text: BRCA2: F354L

PubMed Link: 30051098

Variant Present in the following documents:

• Main text

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: F354L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

British Journal Of Cancer

Leongamornlert, D D; Saunders, E E; Dadaev, T T; Tymrakiewicz, M M; Goh, C C; Jugurnauth-Little, S S; Kozarewa, I I; Fenwick, K K; Assiotis, I I; Barrowdale, D D; Govindasami, K K; Guy, M M; Sawyer, E E; Wilkinson, R R; , ; Antoniou, A C AC; Eeles, R R; Kote-Jarai, Z Z

Publication Date: 2014-03-18

Variant appearance in text: BRCA2: Phe354Leu

PubMed Link: 24556621

Variant Present in the following documents:

View BVdb publication page

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