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: 799G>T; G267*; rs786202796

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: 799G>T; Gly267Ter

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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Pan-cancer molecular tumor board experience with biomarker-driven precision immunotherapy.

Npj Precision Oncology

Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Okamura, Ryosuke R; Eskander, Ramez N RN; Botta, Gregory G; Patel, Hitendra H; Lee, Suzanna S; Lippman, Scott M SM; Sicklick, Jason K JK; Kurzrock, Razelle R

Publication Date: 2022-09-22

Variant appearance in text: BRCA2: 799G>T; G267X

PubMed Link: 36138116

Variant Present in the following documents:

• 41698_2022_309_MOESM1_ESM.pdf

View BVdb publication page

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Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2021-10-04

Variant appearance in text: BRCA2: G267*

PubMed Link: 34607609

Variant Present in the following documents:

• 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
• 13073_2021_969_MOESM1_ESM.xlsx, sheet 2

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: 799G>T; Gly267Ter; rs786202796

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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Molecular profile of BRCA-mutated biliary tract cancers.

Esmo Open

Spizzo, Gilbert G; Puccini, Alberto A; Xiu, Joanne J; Goldberg, Richard M RM; Grothey, Axel A; Shields, Anthony F AF; Arora, Sukeshi Patel SP; Khushman, Moh'd M; Salem, Mohamed E ME; Battaglin, Francesca F; Baca, Yasmine Y; El-Deiry, Wafik S WS; Philip, Philip A PA; Nassem, Madiha M; Hall, Michael M; Marshall, John L JL; Kocher, Florian F; Amann, Arno A; Wolf, Dominik D; Korn, W Michael WM; Lenz, Heinz-Josef HJ; Seeber, Andreas A

Publication Date: 2020-06

Variant appearance in text: BRCA2: G267X

PubMed Link: 32576609

Variant Present in the following documents:

• esmoopen-2020-000682supp001.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: BRCA2: 799G>T; Gly267X

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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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

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

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA2: 799G>T

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.

Journal Of The National Cancer Institute

Vos, Janet R JR; Fakkert, Ingrid E IE; de Hullu, Joanne A JA; van Altena, Anne M AM; Sie, Aisha S AS; Ouchene, Hicham H; Willems, Riki W RW; Nagtegaal, Iris D ID; Jongmans, Marjolijn C J MCJ; Mensenkamp, Arjen R AR; Woldringh, Gwendolyn H GH; Bulten, Johan J; Leter, Edward M EM; Kets, C Marleen CM; Simons, Michiel M; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,

Publication Date: 2020-02-01

Variant appearance in text: BRCA2: 799G>T

PubMed Link: 31076742

Variant Present in the following documents:

• Main text
• djz080.pdf

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: 799G>T; Gly267Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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