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: 3296C>G; Ser1099Ter; rs397507663

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: 3296C>G; Ser1099Ter

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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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: 3296C>G

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4

View BVdb publication page

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Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.

Frontiers In Oncology

Azzollini, Jacopo J; Vingiani, Andrea A; Agnelli, Luca L; Tamborini, Elena E; Perrone, Federica F; Conca, Elena E; Capone, Iolanda I; Busico, Adele A; Peissel, Bernard B; Rosina, Erica E; Ducceschi, Monika M; Mantiero, Mara M; Lopez, Salvatore S; Raspagliesi, Francesco F; Niger, Monica M; Duca, Matteo M; Damian, Silvia S; Proto, Claudia C; de Braud, Filippo F; Pruneri, Giancarlo G; Manoukian, Siranoush S

Publication Date: 2022

Variant appearance in text: BRCA2: Ser1099*

PubMed Link: 35463374

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Jama Oncology

Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2022-06-01

Variant appearance in text: BRCA2: 3296C>G; Ser1099*; rs397507663

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: BRCA2: 3296C>G; Ser1099Ter

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

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: 3296C>G; S1099X; rs397507663

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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Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer

Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J

Publication Date: 2020-10-14

Variant appearance in text: BRCA2: S1099*

PubMed Link: 33054725

Variant Present in the following documents:

• 12885_2020_7481_MOESM3_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: 3296C>G; Ser1099X

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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Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice.

Cancers

Singh, Aditi P AP; Shum, Elaine E; Rajdev, Lakshmi L; Cheng, Haiying H; Goel, Sanjay S; Perez-Soler, Roman R; Halmos, Balazs B

Publication Date: 2020-05-04

Variant appearance in text: BRCA2: S1099*

PubMed Link: 32375398

Variant Present in the following documents:

• Main text
• cancers-12-01156.pdf

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: BRCA2: 3296C>G; S1099*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International

Karami, Fatemeh F; Mehdipour, Parvin P

Publication Date: 2013

Variant appearance in text: BRCA2: S1099X

PubMed Link: 24312913

Variant Present in the following documents:

• Main text
• BMRI2013-928562.pdf

View BVdb publication page

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