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: 3323del; Lys1108fs

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: 3323del; Lys1108fs

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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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: 3323delA; Lys1108Argfs

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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Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

Jama Network Open

George, Sophia H L SHL; Donenberg, Talia T; Alexis, Cheryl C; DeGennaro, Vincent V; Dyer, Hedda H; Yin, Sook S; Ali, Jameel J; Butler, Raleigh R; Chin, Sheray N SN; Curling, DuVaughn D; Lowe, Dwight D; Lunn, John J; Turnquest, Theodore T; Wharfe, Gilian G; Cerbon, Danielle D; Barreto-Coelho, Priscila P; Schlumbrecht, Matthew P MP; Akbari, Mohammad R MR; Narod, Steven A SA; Hurley, Judith E JE

Publication Date: 2021-03-01

Variant appearance in text: BRCA2: 3323delA

PubMed Link: 33646313

Variant Present in the following documents:

• jamanetwopen-e210307-s001.pdf

View BVdb publication page

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Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Journal Of The National Cancer Institute

Palmer, Julie R JR; Polley, Eric C EC; Hu, Chunling C; John, Esther M EM; Haiman, Christopher C; Hart, Steven N SN; Gaudet, Mia M; Pal, Tuya T; Anton-Culver, Hoda H; Trentham-Dietz, Amy A; Bernstein, Leslie L; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bertrand, Kimberly A KA; Bethea, Traci N TN; Gao, Chi C; Gnanaolivu, Rohan D RD; Huang, Hongyan H; Lee, Kun Y KY; LeMarchand, Loic L; Na, Jie J; Sandler, Dale P DP; Shah, Payal D PD; Yadav, Siddhartha S; Yang, William W; Weitzel, Jeffrey N JN; Domchek, Susan M SM; Goldgar, David E DE; Nathanson, Katherine L KL; Kraft, Peter P; Yao, Song S; Couch, Fergus J FJ

Publication Date: 2020-12-14

Variant appearance in text: BRCA2: 3323delA

PubMed Link: 32427313

Variant Present in the following documents:

• Main text

View BVdb publication page

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High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Npj Genomic Medicine

Bertelsen, Birgitte B; Tuxen, Ida Viller IV; Yde, Christina Westmose CW; Gabrielaite, Migle M; Torp, Mathias Husted MH; Kinalis, Savvas S; Oestrup, Olga O; Rohrberg, Kristoffer K; Spangaard, Iben I; Santoni-Rugiu, Eric E; Wadt, Karin K; Mau-Sorensen, Morten M; Lassen, Ulrik U; Nielsen, Finn Cilius FC

Publication Date: 2019

Variant appearance in text: BRCA2: 3323del

PubMed Link: 31263571

Variant Present in the following documents:

• 41525_2019_87_MOESM1_ESM.pdf

View BVdb publication page

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Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.

Plos One

Beaufort, Corine M CM; Helmijr, Jean C A JC; Piskorz, Anna M AM; Hoogstraat, Marlous M; Ruigrok-Ritstier, Kirsten K; Besselink, Nicolle N; Murtaza, Muhammed M; van IJcken, Wilfred F J WF; Heine, Anouk A J AA; Smid, Marcel M; Koudijs, Marco J MJ; Brenton, James D JD; Berns, Els M J J EM; Helleman, Jozien J

Publication Date: 2014

Variant appearance in text: BRCA2: 3320del

PubMed Link: 25230021

Variant Present in the following documents:

• pone.0103988.s007.xlsx, sheet 1

View BVdb publication page

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