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: MSH2: 1276+2T>A; rs267607953

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: MSH2: 1276+2T>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: MSH2: 1276+2T>A

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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The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity.

Bmc Genomics

Yuan, Jie J; Yi, Ji J; Zhan, Meixiao M; Xie, Qingqing Q; Zhen, Ting Ting TT; Zhou, Jian J; Li, Zeqing Z; Li, Zhou Z

Publication Date: 2021-11-18

Variant appearance in text: rs267607953

PubMed Link: 34794394

Variant Present in the following documents:

• Main text
• 12864_2021_Article_8149.pdf

View BVdb publication page

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MSH2: 1276+2T>A

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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DNA damage repair alterations are frequent in prostatic adenocarcinomas with focal pleomorphic giant-cell features.

Histopathology

Lotan, Tamara L TL; Kaur, Harsimar B HB; Alharbi, Abdullah M AM; Pritchard, Colin C CC; Epstein, Jonathan I JI

Publication Date: 2019-05

Variant appearance in text: MSH2: 1276+2T>A

PubMed Link: 30636012

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsatellite instability in prostate cancer by PCR or next-generation sequencing.

Journal For Immunotherapy Of Cancer

Hempelmann, Jennifer A JA; Lockwood, Christina M CM; Konnick, Eric Q EQ; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL; Montgomery, Bruce B; Nelson, Peter S PS; Klemfuss, Nola N; Salipante, Stephen J SJ; Pritchard, Colin C CC

Publication Date: 2018-04-17

Variant appearance in text: MSH2: 1276+2T>A

PubMed Link: 29665853

Variant Present in the following documents:

• 40425_2018_341_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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MSH2 Loss in Primary Prostate Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Guedes, Liana B LB; Antonarakis, Emmanuel S ES; Schweizer, Michael T MT; Mirkheshti, Nooshin N; Almutairi, Fawaz F; Park, Jong Chul JC; Glavaris, Stephanie S; Hicks, Jessica J; Eisenberger, Mario A MA; De Marzo, Angelo M AM; Epstein, Jonathan I JI; Isaacs, William B WB; Eshleman, James R JR; Pritchard, Colin C CC; Lotan, Tamara L TL

Publication Date: 2017-11-15

Variant appearance in text: MSH2: 1276+2T>A

PubMed Link: 28790115

Variant Present in the following documents:

• Main text

View BVdb publication page

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