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: 3600T>A; C1200*; rs786203359

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: 3600T>A; Cys1200Ter

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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Emerging target discovery and drug repurposing opportunities in chordoma.

Frontiers In Oncology

Freed, Daniel M DM; Sommer, Josh J; Punturi, Nindo N

Publication Date: 2022

Variant appearance in text: BRCA2: C1200*

PubMed Link: 36387127

Variant Present in the following documents:

• Main text
• fonc-12-1009193.pdf

View BVdb publication page

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Vulnerability to low-dose combination of irinotecan and niraparib in ATM-mutated colorectal cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Vitiello, Pietro Paolo PP; Martini, Giulia G; Mele, Luigi L; Giunta, Emilio Francesco EF; De Falco, Vincenzo V; Ciardiello, Davide D; Belli, Valentina V; Cardone, Claudia C; Matrone, Nunzia N; Poliero, Luca L; Tirino, Virginia V; Napolitano, Stefania S; Della Corte, Carminia C; Selvaggi, Francesco F; Papaccio, Gianpaolo G; Troiani, Teresa T; Morgillo, Floriana F; Desiderio, Vincenzo V; Ciardiello, Fortunato F; Martinelli, Erika E

Publication Date: 2021-01-06

Variant appearance in text: BRCA2: C1200*

PubMed Link: 33407715

Variant Present in the following documents:

• 13046_2020_1811_MOESM2_ESM.xlsx, sheet 1

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: 3600T>A; Cys1200X

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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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BRCA2: C1200*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1

View BVdb publication page

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A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Bmc Cancer

Mohammadi, Leila L; Vreeswijk, Maaike P MP; Oldenburg, Rogier R; van den Ouweland, Ans A; Oosterwijk, Jan C JC; van der Hout, Annemarie H AH; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn M; Ausems, Margreet G MG; van der Luijt, Rob B RB; Dommering, Charlotte J CJ; Gille, Johan J JJ; Verhoef, Senno S; Hogervorst, Frans B FB; van Os, Theo A TA; Gómez García, Encarna E; Blok, Marinus J MJ; Wijnen, Juul T JT; Helmer, Quinta Q; Devilee, Peter P; van Asperen, Christi J CJ; van Houwelingen, Hans C HC

Publication Date: 2009-06-29

Variant appearance in text: BRCA2: Cys1200X

PubMed Link: 19563646

Variant Present in the following documents:

• Main text
• 1471-2407-9-211.pdf

View BVdb publication page

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