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: 2536C>T; Gln846Ter; rs63750857

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: MSH2: 2536C>T; Gln846Ter

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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Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.

Esmo Open

Poliani, L L; Greco, L L; Barile, M M; Buono, A Dal AD; Bianchi, P P; Basso, G G; Giatti, V V; Genuardi, M M; Malesci, A A; Laghi, L L; ,

Publication Date: 2022-11-07

Variant appearance in text: MSH2: 2536C>T; Gln846Ter

PubMed Link: 36356413

Variant Present in the following documents:

• Main text
• main.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: MSH2: 2536C>T; Gln846Ter; rs63750857

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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Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.

Jco Precision Oncology

Eskander, Ramez N RN; Elvin, Julia J; Gay, Laurie L; Ross, Jeffrey S JS; Miller, Vincent A VA; Kurzrock, Razelle R

Publication Date: 2020

Variant appearance in text: MSH2: Q846*

PubMed Link: 33015532

Variant Present in the following documents:

• PO.19.00248.pdf

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

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

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: MSH2: 2536C>T

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One

De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A

Publication Date: 2013

Variant appearance in text: MSH2: 2536C>T; Gln846*

PubMed Link: 24278394

Variant Present in the following documents:

• Main text
• pone.0081194.pdf

View BVdb publication page

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