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: 2815C>T; Gln939Ter; rs63750140
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: 2815C>T; Gln939Ter
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.
Hemasphere
Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC
Publication Date: 2022-01
Variant appearance in text: MSH6: 2815C>T; Gln939*
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Oncotarget
Jóri, Balazs B; Kamps, Rick R; Xanthoulea, Sofia S; Delvoux, Bert B; Blok, Marinus J MJ; Van de Vijver, Koen K KK; de Koning, Bart B; Oei, Felicia Trups FT; Tops, Carli M CM; Speel, Ernst Jm EJ; Kruitwagen, Roy F RF; Gomez-Garcia, Encarna B EB; Romano, Andrea A
Publication Date: 2015-12-01
Variant appearance in text: MSH6: 2815C>T; Gln939*
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.
British Journal Of Cancer
You, J-F JF; Buhard, O O; Ligtenberg, M J L MJ; Kets, C M CM; Niessen, R C RC; Hofstra, R M W RM; Wagner, A A; Dinjens, W N M WN; Colas, C C; Lascols, O O; Collura, A A; Flejou, J-F JF; Duval, A A; Hamelin, R R
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21
Variant appearance in text: MSH6: 2815C>T; Gln939X
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.
British Journal Of Cancer
Kets, C M CM; van Krieken, J H J M JH; Hebeda, K M KM; Wezenberg, S J SJ; Goossens, M M; Brunner, H G HG; Ligtenberg, M J L MJ; Hoogerbrugge, N N
Publication Date: 2006-12-18
Variant appearance in text: MSH6: 2815C>T; Gln939X