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: MLH1: 2141G>A; Trp714Ter; rs63751022
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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: MLH1: 2141G>A; Trp714Ter
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07
Variant appearance in text: MLH1: 2141G>A; Trp714Ter; rs63751022
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020
Variant appearance in text: MLH1: 2141G>A; Trp714Ter
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Plos One
Martin-Morales, Lorena L; Rofes, Paula P; Diaz-Rubio, Eduardo E; Llovet, Patricia P; Lorca, Victor V; Bando, Inmaculada I; Perez-Segura, Pedro P; de la Hoya, Miguel M; Garre, Pilar P; Garcia-Barberan, Vanesa V; Caldes, Trinidad T
Publication Date: 2018
Variant appearance in text: MLH1: 2141G>A; Trp714Ter
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.
World Journal Of Gastroenterology
Sheng, Jian-Qiu JQ; Zhang, Hong H; Ji, Min M; Fu, Lei L; Mu, Hong H; Zhang, Ming-Zhi MZ; Huang, Ji-Sheng JS; Han, Min M; Li, Ai-Qin AQ; Wei, Zhi Z; Sun, Zi-Qin ZQ; Wu, Zi-Tao ZT; Xia, Chang-Hong CH; Li, Shi-Rong SR
Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.
World Journal Of Gastroenterology
Papp, Janos J; Kovacs, Marietta E ME; Olah, Edith E
Phenotypic heterogeneity in hereditary non-polyposis colorectal cancer: identical germline mutations associated with variable tumour morphology and immunohistochemical expression.
Journal Of Clinical Pathology
Halvarsson, Britta B; Müller, Wolfram W; Planck, Maria M; Benoni, Anna Clara AC; Mangell, Peter P; Ottosson, Johan J; Hallén, Magnus M; Isinger, Anna A; Nilbert, Mef M
MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.
American Journal Of Human Genetics
Chan, Tsun Leung TL; Chan, Yee Wai YW; Ho, Judy W C JW; Chan, Celine C; Chan, Annie S Y AS; Chan, Emily E; Lam, Polly W Y PW; Tse, Chun Wah CW; Lee, Kam Cheong KC; Lau, Chi Waii CW; Gwi, Elaine E; Leung, Suet Yi SY; Yuen, Siu Tsan ST
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
American Journal Of Human Genetics
Foulkes, W D WD; Thiffault, I I; Gruber, S B SB; Horwitz, M M; Hamel, N N; Lee, C C; Shia, J J; Markowitz, A A; Figer, A A; Friedman, E E; Farber, D D; Greenwood, C M T CM; Bonner, J D JD; Nafa, K K; Walsh, T T; Marcus, V V; Tomsho, L L; Gebert, J J; Macrae, F A FA; Gaff, C L CL; Paillerets, B Bressac-De BB; Gregersen, P K PK; Weitzel, J N JN; Gordon, P H PH; MacNamara, E E; King, M-C MC; Hampel, H H; De La Chapelle, A A; Boyd, J J; Offit, K K; Rennert, G G; Chong, G G; Ellis, N A NA