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: 1030C>T; Gln344Ter; rs730881815

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: MSH6: 1030C>T; Gln344Ter

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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An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

Human Genome Variation

Vostrukhina, Olga A OA; Mirlina, Elena D ED; Khmelkova, Darya N DN; Butrovich, Galina M GM; Shakhmatova, Alexandra D AD; Kil, Yury V YV; Polyatskin, Yliya L YL; Artemyeva, Anna S AS; Gulyaev, Alexey V AV; Verbenko, Valery N VN

Publication Date: 2022-10-26

Variant appearance in text: MSH6: Gln344Ter

PubMed Link: 36289196

Variant Present in the following documents:

• Main text
• 41439_2022_Article_216.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: MSH6: 1030C>T; Gln344Ter

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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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: MSH6: 1030C>T; Q344*

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx, sheet 4
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

View BVdb publication page

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Stratification of patients with colorectal cancer without the recorded family history.

Oncology Letters

Kašubová, Ivana I; Kalman, Michal M; Jašek, Karin K; Burjanivová, Tatiana T; Malicherová, Bibiana B; Vaňochová, Andrea A; Meršaková, Sandra S; Lasabová, Zora Z; Plank, Lukáš L

Publication Date: 2019-04

Variant appearance in text: MSH6: 1030C>T; Q344X

PubMed Link: 30881489

Variant Present in the following documents:

• Main text
• ol-17-04-3649.pdf

View BVdb publication page

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MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

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

Giráldez, María Dolores MD; Balaguer, Francesc F; Bujanda, Luis L; Cuatrecasas, Miriam M; Muñoz, Jenifer J; Alonso-Espinaco, Virginia V; Larzabal, Mikel M; Petit, Anna A; Gonzalo, Victoria V; Ocaña, Teresa T; Moreira, Leticia L; Enríquez-Navascués, José María JM; Boland, C Richard CR; Goel, Ajay A; Castells, Antoni A; Castellví-Bel, Sergi S

Publication Date: 2010-11-15

Variant appearance in text: MSH6: Q344X

PubMed Link: 20924129

Variant Present in the following documents:

• Main text

View BVdb publication page

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