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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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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: BRCA1: 2603C>A; Ser868Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: BRCA1: 2603C>A; Ser868*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s011.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: BRCA1: 2603C>A; Ser868Ter; rs80356925

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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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: BRCA1: 2603C>A; Ser868X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: N/A

PubMed Link: 32210335

Variant Present in the following documents:

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Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Ophthalmology

Abdel-Rahman, Mohamed H MH; Sample, Klarke M KM; Pilarski, Robert R; Walsh, Tomas T; Grosel, Timothy T; Kinnamon, Daniel D; Boru, Getachew G; Massengill, James B JB; Schoenfield, Lynn L; Kelly, Ben B; Gordon, David D; Johansson, Peter P; DeBenedictis, Meghan J MJ; Singh, Arun A; Casadei, Silvia S; Davidorf, Frederick H FH; White, Peter P; Stacey, Andrew W AW; Scarth, James J; Fewings, Ellie E; Tischkowitz, Marc M; King, Mary-Claire MC; Hayward, Nicholas K NK; Cebulla, Colleen M CM

Publication Date: 2020-05

Variant appearance in text: BRCA1: Ser868*; rs80356925

PubMed Link: 32081490

Variant Present in the following documents:

• Main text

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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer

Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM

Publication Date: 2019-08-15

Variant appearance in text: rs80356925

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s004.xlsx, sheet 1

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Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Oncotarget

Kim, Yeong C YC; Zhao, Linli L; Zhang, Hanwen H; Huang, Ye Y; Cui, Jian J; Xiao, Fengxia F; Downs, Bradley B; Wang, San Ming SM

Publication Date: 2016-02-23

Variant appearance in text: BRCA1: 2603C>A

PubMed Link: 26848529

Variant Present in the following documents:

• Main text
• oncotarget-07-9600-s002.xlsx, sheet 1
• oncotarget-07-9600-s001.pdf
• oncotarget-07-9600.pdf

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Hereditary breast cancer in the Han Chinese population.

Journal Of Epidemiology

Cao, Wenming W; Wang, Xiaojia X; Li, Ji-Cheng JC

Publication Date: 2013

Variant appearance in text: BRCA1: S868X

PubMed Link: 23318652

Variant Present in the following documents:

• je-23-075-s001.pdf

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Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Spearman, Andrew D AD; Sweet, Kevin K; Zhou, Xiao-Ping XP; McLennan, Jane J; Couch, Fergus J FJ; Toland, Amanda Ewart AE

Publication Date: 2008-11-20

Variant appearance in text: N/A

PubMed Link: 18824701

Variant Present in the following documents:

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Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr

Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G

Publication Date: 2008

Variant appearance in text: BRCA1: S868X

PubMed Link: 18284688

Variant Present in the following documents:

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Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

American Journal Of Human Genetics

Liede, Alexander A; Malik, Imtiaz A IA; Aziz, Zeba Z; Rios Pd, Patricia de los Pde L; Kwan, Elaine E; Narod, Steven A SA

Publication Date: 2002-09

Variant appearance in text: BRCA1: S868X

PubMed Link: 12181777

Variant Present in the following documents:

• Main text

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