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: 1408del; rs63750384

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: 1408del

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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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 1408del

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM2_ESM.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: MSH2: 1408delG; Val470Terfs; rs63750384

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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Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

Jama Dermatology

Everett, Jessica N JN; Raymond, Victoria M VM; Dandapani, Monica M; Marvin, Monica M; Kohlmann, Wendy W; Chittenden, Anu A; Koeppe, Erika E; Gustafson, Shanna L SL; Else, Tobias T; Fullen, Douglas R DR; Johnson, Timothy M TM; Syngal, Sapna S; Gruber, Stephen B SB; Stoffel, Elena M EM

Publication Date: 2014-12

Variant appearance in text: MSH2: 1408delG; V470X

PubMed Link: 25006859

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

Gut

Mueller-Koch, Y Y; Vogelsang, H H; Kopp, R R; Lohse, P P; Keller, G G; Aust, D D; Muders, M M; Gross, M M; Daum, J J; Schiemann, U U; Grabowski, M M; Scholz, M M; Kerker, B B; Becker, I I; Henke, G G; Holinski-Feder, E E

Publication Date: 2005-12

Variant appearance in text: MSH2: 1408delG

PubMed Link: 15955785

Variant Present in the following documents:

• Main text

View BVdb publication page

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