Publications:

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: 3264_3265insTT; Gln1089fs; rs80359380

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: 3264_3265insTT; Gln1089fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: rs80359380

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS5.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1

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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: 3264_3265insTT; Gln1089Phefs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The Lancet. Oncology

Waszak, Sebastian M SM; Northcott, Paul A PA; Buchhalter, Ivo I; Robinson, Giles W GW; Sutter, Christian C; Groebner, Susanne S; Grund, Kerstin B KB; Brugières, Laurence L; Jones, David T W DTW; Pajtler, Kristian W KW; Morrissy, A Sorana AS; Kool, Marcel M; Sturm, Dominik D; Chavez, Lukas L; Ernst, Aurelie A; Brabetz, Sebastian S; Hain, Michael M; Zichner, Thomas T; Segura-Wang, Maia M; Weischenfeldt, Joachim J; Rausch, Tobias T; Mardin, Balca R BR; Zhou, Xin X; Baciu, Cristina C; Lawerenz, Christian C; Chan, Jennifer A JA; Varlet, Pascale P; Guerrini-Rousseau, Lea L; Fults, Daniel W DW; Grajkowska, Wiesława W; Hauser, Peter P; Jabado, Nada N; Ra, Young-Shin YS; Zitterbart, Karel K; Shringarpure, Suyash S SS; De La Vega, Francisco M FM; Bustamante, Carlos D CD; Ng, Ho-Keung HK; Perry, Arie A; MacDonald, Tobey J TJ; Hernáiz Driever, Pablo P; Bendel, Anne E AE; Bowers, Daniel C DC; McCowage, Geoffrey G; Chintagumpala, Murali M MM; Cohn, Richard R; Hassall, Timothy T; Fleischhack, Gudrun G; Eggen, Tone T; Wesenberg, Finn F; Feychting, Maria M; Lannering, Birgitta B; Schüz, Joachim J; Johansen, Christoffer C; Andersen, Tina V TV; Röösli, Martin M; Kuehni, Claudia E CE; Grotzer, Michael M; Kjaerheim, Kristina K; Monoranu, Camelia M CM; Archer, Tenley C TC; Duke, Elizabeth E; Pomeroy, Scott L SL; Shelagh, Redmond R; Frank, Stephan S; Sumerauer, David D; Scheurlen, Wolfram W; Ryzhova, Marina V MV; Milde, Till T; Kratz, Christian P CP; Samuel, David D; Zhang, Jinghui J; Solomon, David A DA; Marra, Marco M; Eils, Roland R; Bartram, Claus R CR; von Hoff, Katja K; Rutkowski, Stefan S; Ramaswamy, Vijay V; Gilbertson, Richard J RJ; Korshunov, Andrey A; Taylor, Michael D MD; Lichter, Peter P; Malkin, David D; Gajjar, Amar A; Korbel, Jan O JO; Pfister, Stefan M SM

Publication Date: 2018-06

Variant appearance in text: rs80359380

PubMed Link: 29753700

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page