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: PMS2: 949C>T; Gln317Ter; rs143277125

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: PMS2: 949C>T; Gln317Ter

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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PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.

Global Medical Genetics

Poaty, Henriette H; Bouya, Lauria Batamba LB; Lumaka, Aimé A; Mongo-Onkouo, Arnaud A; Gassaye, Deby D

Publication Date: 2023-01

Variant appearance in text: PMS2: Gln317Ter

PubMed Link: 36644715

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1759888.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: PMS2: 949C>T; Gln317*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.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: PMS2: 949C>T; Gln317Ter; rs143277125

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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Recurrent and founder mutations in the PMS2 gene.

Clinical Genetics

Tomsic, J J; Senter, L L; Liyanarachchi, S S; Clendenning, M M; Vaughn, C P CP; Jenkins, M A MA; Hopper, J L JL; Young, J J; Samowitz, W W; de la Chapelle, A A

Publication Date: 2013-03

Variant appearance in text: PMS2: 949C>T; Q317X

PubMed Link: 22577899

Variant Present in the following documents:

• Main text

View BVdb publication page

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Gastroenterology

Senter, Leigha L; Clendenning, Mark M; Sotamaa, Kaisa K; Hampel, Heather H; Green, Jane J; Potter, John D JD; Lindblom, Annika A; Lagerstedt, Kristina K; Thibodeau, Stephen N SN; Lindor, Noralane M NM; Young, Joanne J; Winship, Ingrid I; Dowty, James G JG; White, Darren M DM; Hopper, John L JL; Baglietto, Laura L; Jenkins, Mark A MA; de la Chapelle, Albert A

Publication Date: 2008-08

Variant appearance in text: PMS2: 949C>T; Q317X

PubMed Link: 18602922

Variant Present in the following documents:

• Main text

View BVdb publication page

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