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: 3748G>T; E1250*; rs80358615

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: 3748G>T; Glu1250Ter

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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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs80358615

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 3748G>T; Glu1250Ter

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s001.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 5

View BVdb publication page

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Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Genes

Sekine, Masayuki M; Nishino, Koji K; Enomoto, Takayuki T

Publication Date: 2021-07-08

Variant appearance in text: BRCA2: 3748G>T; Glu1250Ter

PubMed Link: 34356066

Variant Present in the following documents:

• genes-12-01050.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: 3748G>T; Glu1250Ter; rs80358615

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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Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Genes

Lovejoy, Leann A LA; Turner, Clesson E CE; Wells, Justin M JM; Shriver, Craig D CD; Ellsworth, Rachel E RE

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: Glu1250Ter

PubMed Link: 33302456

Variant Present in the following documents:

• genes-11-01469.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: 3748G>T; Glu1250X

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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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: 3748G>T; Glu1250Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Plos One

Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W

Publication Date: 2015

Variant appearance in text: BRCA2: 3748G>T; Glu1250Ter

PubMed Link: 26295337

Variant Present in the following documents:

• pone.0136419.pdf

View BVdb publication page

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Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics

Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW

Publication Date: 2016-01

Variant appearance in text: BRCA2: 3748G>T

PubMed Link: 26187060

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

Cancer

Bayraktar, Soley S; Elsayegh, Nisreen N; Gutierrez Barrera, Angelica M AM; Lin, Heather H; Kuerer, Henry H; Tasbas, Tunc T; Muse, Kimberly I KI; Ready, Kaylene K; Litton, Jennifer J; Meric-Bernstam, Funda F; Hortobagyi, Gabriel N GN; Albarracin, Constance T CT; Arun, Banu B

Publication Date: 2012-03-15

Variant appearance in text: BRCA2: E1250X

PubMed Link: 22009639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

Cancer

Litton, Jennifer K JK; Ready, Kaylene K; Chen, Huiqin H; Gutierrez-Barrera, Angelica A; Etzel, Carol J CJ; Meric-Bernstam, Funda F; Gonzalez-Angulo, Ana M AM; Le-Petross, Huong H; Lu, Karen K; Hortobagyi, Gabriel N GN; Arun, Banu K BK

Publication Date: 2012-01-15

Variant appearance in text: BRCA2: E1250X

PubMed Link: 21913181

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary- and microchip-based electrophoresis.

Genome Research

Tian, H H; Brody, L C LC; Landers, J P JP

Publication Date: 2000-09

Variant appearance in text: BRCA2: E1250X

PubMed Link: 10984458

Variant Present in the following documents:

• Main text

View BVdb publication page

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