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: rs777515082

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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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: BRCA1: I171V; rs777515082

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Split-GFP Reassembly Assay: Strengths and Caveats from a Multiparametric Analysis.

International Journal Of Molecular Sciences

Bignon, Christophe C; Gruet, Antoine A; Longhi, Sonia S

Publication Date: 2022-10-29

Variant appearance in text: BRCA1: I171V

PubMed Link: 36361946

Variant Present in the following documents:

• ijms-23-13167.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: I171V

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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Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.

Cancer Control : Journal Of The Moffitt Cancer Center

Heise, Marta M; Jarzemski, Piotr P; Nowak, Dagmara D; Bąk, Aneta A; Junkiert-Czarnecka, Anna A; Pilarska-Deltow, Maria M; Borysiak, Maciej M; Pilarska, Beata B; Haus, Olga O

Publication Date: 2022

Variant appearance in text: BRCA1: I171V

PubMed Link: 35638715

Variant Present in the following documents:

• Main text
• 10.1177_10732748211062342.pdf

View BVdb publication page

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NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

Scientific Reports

Tomioka, Keita K; Miyamoto, Tatsuo T; Akutsu, Silvia Natsuko SN; Yanagihara, Hiromi H; Fujita, Kazumasa K; Royba, Ekaterina E; Tauchi, Hiroshi H; Yamamoto, Takashi T; Koh, Iemasa I; Hirata, Eiji E; Kudo, Yoshiki Y; Kobayashi, Masao M; Okada, Satoshi S; Matsuura, Shinya S

Publication Date: 2021-10-04

Variant appearance in text: BRCA1: 511A>G; Ile171Val

PubMed Link: 34608183

Variant Present in the following documents:

• Main text
• 41598_2021_Article_98673.pdf

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: BRCA1: 511A>G; Ile171Val

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

International Journal Of Molecular Sciences

Zuntini, Roberta R; Bonora, Elena E; Pradella, Laura Maria LM; Amato, Laura Benedetta LB; Vidone, Michele M; De Fanti, Sara S; Catucci, Irene I; Cortesi, Laura L; Medici, Veronica V; Ferrari, Simona S; Gasparre, Giuseppe G; Peterlongo, Paolo P; Sazzini, Marco M; Turchetti, Daniela D

Publication Date: 2021-05-29

Variant appearance in text: BRCA1: 511A>G; I171V

PubMed Link: 34072463

Variant Present in the following documents:

• ijms-22-05832.pdf

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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA1: I171V

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Inhibition of DNA Repair in Cancer Therapy: Toward a Multi-Target Approach.

International Journal Of Molecular Sciences

Lodovichi, Samuele S; Cervelli, Tiziana T; Pellicioli, Achille A; Galli, Alvaro A

Publication Date: 2020-09-12

Variant appearance in text: BRCA1: I171V

PubMed Link: 32932697

Variant Present in the following documents:

• Main text
• ijms-21-06684.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: BRCA1: 511A>G; Ile171Val

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: BRCA1: 511A>G; Ile171Val; rs777515082

PubMed Link: 31911673

Variant Present in the following documents:

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

View BVdb publication page

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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers

Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M

Publication Date: 2018-11-14

Variant appearance in text: BRCA1: 511A>G; Ile171Val

PubMed Link: 30441849

Variant Present in the following documents:

• Main text
• cancers-10-00442.pdf

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: I171V

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.

Scientific Reports

Liu, Jingjing J; Lončar, Ivona I; Collée, J Margriet JM; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Andrulis, Irene L IL; Barile, Monica M; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Blomqvist, Carl C; Boeckx, Bram B; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brauch, Hiltrud H; Brennan, Paul P; Brenner, Hermann H; Broeks, Annegien A; Burwinkel, Barbara B; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Chenevix-Trench, Georgia G; Cheng, Ching Y CY; Choi, Ji-Yeob JY; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cuk, Katarina K; Czene, Kamila K; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Goldberg, Mark S MS; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hamann, Ute U; Hart, Steven N SN; Hartman, Mikael M; Hatse, Sigrid S; Hopper, John L JL; Ito, Hidemi H; Jakubowska, Anna A; Kabisch, Maria M; Kang, Daehee D; Kosma, Veli-Matti VM; Kristensen, Vessela N VN; Le Marchand, Loic L; Lee, Eunjung E; Li, Jingmei J; Lophatananon, Artitaya A; Jan Lubinski, ; Mannermaa, Arto A; Matsuo, Keitaro K; Milne, Roger L RL; , ; Neuhausen, Susan L SL; Nevanlinna, Heli H; Orr, Nick N; Perez, Jose I A JI; Peto, Julian J; Putti, Thomas C TC; Pylkäs, Katri K; Radice, Paolo P; Sangrajrang, Suleeporn S; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schneeweiss, Andreas A; Shen, Chen-Yang CY; Shrubsole, Martha J MJ; Shu, Xiao-Ou XO; Simard, Jacques J; Southey, Melissa C MC; Swerdlow, Anthony A; Teo, Soo H SH; Tessier, Daniel C DC; Thanasitthichai, Somchai S; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; Tseng, Chiu-Chen CC; Vachon, Celine C; Winqvist, Robert R; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zheng, Wei W; Hall, Per P; Dunning, Alison M AM; Easton, Douglas F DF; Hooning, Maartje J MJ; van den Ouweland, Ans M W AM; Martens, John W M JW; Hollestelle, Antoinette A

Publication Date: 2016-11-15

Variant appearance in text: BRCA1: I171V

PubMed Link: 27845421

Variant Present in the following documents:

• Main text
• srep36874.pdf

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Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

Plos One

Domagala, Pawel P; Jakubowska, Anna A; Jaworska-Bieniek, Katarzyna K; Kaczmarek, Katarzyna K; Durda, Katarzyna K; Kurlapska, Agnieszka A; Cybulski, Cezary C; Lubinski, Jan J

Publication Date: 2015

Variant appearance in text: BRCA1: 511A>G

PubMed Link: 26083025

Variant Present in the following documents:

• pone.0130393.s001.xlsx, sheet 1

View BVdb publication page

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Breast Cancer Research : Bcr

Damiola, Francesca F; Pertesi, Maroulio M; Oliver, Javier J; Le Calvez-Kelm, Florence F; Voegele, Catherine C; Young, Erin L EL; Robinot, Nivonirina N; Forey, Nathalie N; Durand, Geoffroy G; Vallée, Maxime P MP; Tao, Kayoko K; Roane, Terrell C TC; Williams, Gareth J GJ; Hopper, John L JL; Southey, Melissa C MC; Andrulis, Irene L IL; John, Esther M EM; Goldgar, David E DE; Lesueur, Fabienne F; Tavtigian, Sean V SV

Publication Date: 2014-06-03

Variant appearance in text: BRCA1: I171V

PubMed Link: 24894818

Variant Present in the following documents:

• bcr3669.pdf

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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology

Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC

Publication Date: 2013

Variant appearance in text: BRCA1: I171V

PubMed Link: 23318652

Variant Present in the following documents:

• Main text
• je-23-075.pdf

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Pathology of hereditary breast cancer.

Cellular Oncology (Dordrecht)

van der Groep, Petra P; van der Wall, Elsken E; van Diest, Paul J PJ

Publication Date: 2011-04

Variant appearance in text: BRCA1: I171V

PubMed Link: 21336636

Variant Present in the following documents:

• 13402_2011_Article_10.pdf

View BVdb publication page

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