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: MSH6: Q978*

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: MSH6: 2932C>T; Gln978Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clonal diversification and histogenesis of malignant germ cell tumours.

Nature Communications

Oliver, Thomas R W TRW; Chappell, Lia L; Sanghvi, Rashesh R; Deighton, Lauren L; Ansari-Pour, Naser N; Dentro, Stefan C SC; Young, Matthew D MD; Coorens, Tim H H THH; Jung, Hyunchul H; Butler, Tim T; Neville, Matthew D C MDC; Leongamornlert, Daniel D; Sanders, Mathijs A MA; Hooks, Yvette Y; Cagan, Alex A; Mitchell, Thomas J TJ; Cortes-Ciriano, Isidro I; Warren, Anne Y AY; Wedge, David C DC; Heer, Rakesh R; Coleman, Nicholas N; Murray, Matthew J MJ; Campbell, Peter J PJ; Rahbari, Raheleh R; Behjati, Sam S

Publication Date: 2022-08-11

Variant appearance in text: MSH6: 2932C>T

PubMed Link: 35953478

Variant Present in the following documents:

• 41467_2022_31375_MOESM4_ESM.xlsx, sheet 8

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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: MSH6: 2932C>T; Gln978Ter; rs587781372

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: MSH6: Q978*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

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Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Cancers

Olkinuora, Alisa A; Gylling, Annette A; Almusa, Henrikki H; Eldfors, Samuli S; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Nieminen, Taina Tuulikki TT; Peltomäki, Päivi P

Publication Date: 2020-07-09

Variant appearance in text: MSH6: 2932C>T; Gln978Ter

PubMed Link: 32660107

Variant Present in the following documents:

• Main text
• cancers-12-01853.pdf

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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: MSH6: 2932C>T; Gln978Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: MSH6: 2932C>T; Q978*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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

LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E

Publication Date: 2014-11

Variant appearance in text: MSH6: Q978X

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

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Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

Clinical Genetics

Cragun, D D; Radford, C C; Dolinsky, J S JS; Caldwell, M M; Chao, E E; Pal, T T

Publication Date: 2014-12

Variant appearance in text: MSH6: Q978X

PubMed Link: 24506336

Variant Present in the following documents:

• Main text
• cge0086-0510.pdf

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DNA and RNA analyses in detection of genetic predisposition to cancer.

Hereditary Cancer In Clinical Practice

Kurzawski, Grzegorz G; Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Trubicka, Joanna J; Masojć, Bartłomiej B; Jakubowska, Anna A; Scott, Rodney J RJ

Publication Date: 2012-12-04

Variant appearance in text: MSH6: 2932C>T

PubMed Link: 23206658

Variant Present in the following documents:

• Main text

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