Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA2: 2426T>G; L809*; rs397507285

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 2426T>G; Leu809Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 2426T>G

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

Bmc Cancer

Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D

Publication Date: 2022-01-03

Variant appearance in text: BRCA2: L809*

PubMed Link: 34979999

Variant Present in the following documents:

• 12885_2021_9082_MOESM1_ESM.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: BRCA2: 2426T>G; L809X; rs397507285

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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: 2426T>G; Leu809X

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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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: BRCA2: L809*

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2019-12-31

Variant appearance in text: BRCA2: 2426T>G; Leu809Ter; rs397507285

PubMed Link: 31892343

Variant Present in the following documents:

• 13073_2019_691_MOESM1_ESM.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 2426T>G; Leu809X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Genomic and phenotypic delineation of congenital microcephaly.

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

Shaheen, Ranad R; Maddirevula, Sateesh S; Ewida, Nour N; Alsahli, Saud S; Abdel-Salam, Ghada M H GMH; Zaki, Maha S MS; Tala, Saeed Al SA; Alhashem, Amal A; Softah, Ameen A; Al-Owain, Mohammed M; Alazami, Anas M AM; Abadel, Basma B; Patel, Nisha N; Al-Sheddi, Tarfa T; Alomar, Rana R; Alobeid, Eman E; Ibrahim, Niema N; Hashem, Mais M; Abdulwahab, Firdous F; Hamad, Muddathir M; Tabarki, Brahim B; Alwadei, Ali H AH; Alhazzani, Fahad F; Bashiri, Fahad A FA; Kentab, Amal A; Şahintürk, Serdar S; Sherr, Elliott E; Fregeau, Brieana B; Sogati, Samira S; Alshahwan, Saad Ali M SAM; Alkhalifi, Salwa S; Alhumaidi, Zainab Z; Temtamy, Samia S; Aglan, Mona M; Otaify, Ghada G; Girisha, Katta M KM; Tulbah, Maha M; Seidahmed, Mohammed Zain MZ; Salih, Mustafa A MA; Abouelhoda, Mohamed M; Momin, Afaque A AA; Saffar, Muna Al MA; Partlow, Jennifer N JN; Arold, Stefan T ST; Faqeih, Eissa E; Walsh, Christopher C; Alkuraya, Fowzan S FS

Publication Date: 2019-03

Variant appearance in text: BRCA2: 2426T>G

PubMed Link: 30214071

Variant Present in the following documents:

• NIHMS1061370-supplement-1061370_Sup_MOESM2.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: 2426T>G

PubMed Link: 30051098

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 2426T>G; Leu809Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: BRCA2: 2426T>G; Leu809Ter

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

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