Publications:

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In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.

Acs Omega

Barua, Siddhartha A SA; Goswami, Nabajyoti N; Mishra, Neha N; Sawant, Ulka U UU; Varma, Ashok K AK

Publication Date: 2022-12-13

Variant appearance in text: BRCA1: W1718L

PubMed Link: 36530327

Variant Present in the following documents:

• Main text
• ao2c04782_si_001.pdf
• ao2c04782.pdf

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: BRCA1: W1718L

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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Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)

Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG

Publication Date: 2019

Variant appearance in text: BRCA1: 5153G>T; Trp1718Leu

PubMed Link: 35582588

Variant Present in the following documents:

• cdr-2-680.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRCA1: W1718L

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.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: BRCA1: 5153G>T; Trp1718Leu

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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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRCA1: W1718L

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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: N/A

PubMed Link: 31911673

Variant Present in the following documents:

View BVdb publication page

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BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

International Journal Of Molecular Sciences

Concolino, Paola P; Gelli, Gianfranco G; Rizza, Roberta R; Costella, Alessandra A; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2019-07-12

Variant appearance in text: BRCA1: Trp1718Leu

PubMed Link: 31336956

Variant Present in the following documents:

• Main text
• ijms-20-03442.pdf

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 5153G>T

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5153G>T; W1718L

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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: BRCA1: W1718L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

Journal Of Medical Genetics

Jhuraney, Ankita A; Velkova, Aneliya A; Johnson, Randall C RC; Kessing, Bailey B; Carvalho, Renato S RS; Whiley, Phillip P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MP; Caputo, Sandrine M SM; Millot, Gael A GA; Vega, Ana A; Coquelle, Nicolas N; Galli, Alvaro A; Eccles, Diana D; Blok, Marinus J MJ; Pal, Tuya T; van der Luijt, Rob B RB; Santamariña Pena, Marta M; Neuhausen, Susan L SL; Donenberg, Talia T; Machackova, Eva E; Thomas, Simon S; Vallée, Maxime M; Couch, Fergus J FJ; Tavtigian, Sean V SV; Glover, J N Mark JN; Carvalho, Marcelo A MA; Brody, Lawrence C LC; Sharan, Shyam K SK; Monteiro, Alvaro N AN; ,

Publication Date: 2015-04

Variant appearance in text: BRCA1: Trp1718Leu

PubMed Link: 25643705

Variant Present in the following documents:

• jmedgenet-2014-102766-s1.pdf

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Functional and structural analysis of C-terminal BRCA1 missense variants.

Plos One

Quiles, Francisco F; Fernández-Rodríguez, Juana J; Mosca, Roberto R; Feliubadaló, Lídia L; Tornero, Eva E; Brunet, Joan J; Blanco, Ignacio I; Capellá, Gabriel G; Pujana, Miquel Àngel MÀ; Aloy, Patrick P; Monteiro, Alvaro A; Lázaro, Conxi C

Publication Date: 2013

Variant appearance in text: BRCA1: 5153G>T; W1718L

PubMed Link: 23613828

Variant Present in the following documents:

• Main text
• pone.0061302.pdf

View BVdb publication page

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