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: 2300C>T; T767I; rs587781462
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: 2300C>T; Thr767Ile
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: MSH6: T767I; rs587781462
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
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Frontiers In Genetics
Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ
Mechanisms and therapeutic implications of hypermutation in gliomas.
Nature
Touat, Mehdi M; Li, Yvonne Y YY; Boynton, Adam N AN; Spurr, Liam F LF; Iorgulescu, J Bryan JB; Bohrson, Craig L CL; Cortes-Ciriano, Isidro I; Birzu, Cristina C; Geduldig, Jack E JE; Pelton, Kristine K; Lim-Fat, Mary Jane MJ; Pal, Sangita S; Ferrer-Luna, Ruben R; Ramkissoon, Shakti H SH; Dubois, Frank F; Bellamy, Charlotte C; Currimjee, Naomi N; Bonardi, Juliana J; Qian, Kenin K; Ho, Patricia P; Malinowski, Seth S; Taquet, Leon L; Jones, Robert E RE; Shetty, Aniket A; Chow, Kin-Hoe KH; Sharaf, Radwa R; Pavlick, Dean D; Albacker, Lee A LA; Younan, Nadia N; Baldini, Capucine C; Verreault, Maïté M; Giry, Marine M; Guillerm, Erell E; Ammari, Samy S; Beuvon, Frédéric F; Mokhtari, Karima K; Alentorn, Agusti A; Dehais, Caroline C; Houillier, Caroline C; Laigle-Donadey, Florence F; Psimaras, Dimitri D; Lee, Eudocia Q EQ; Nayak, Lakshmi L; McFaline-Figueroa, J Ricardo JR; Carpentier, Alexandre A; Cornu, Philippe P; Capelle, Laurent L; Mathon, Bertrand B; Barnholtz-Sloan, Jill S JS; Chakravarti, Arnab A; Bi, Wenya Linda WL; Chiocca, E Antonio EA; Fehnel, Katie Pricola KP; Alexandrescu, Sanda S; Chi, Susan N SN; Haas-Kogan, Daphne D; Batchelor, Tracy T TT; Frampton, Garrett M GM; Alexander, Brian M BM; Huang, Raymond Y RY; Ligon, Azra H AH; Coulet, Florence F; Delattre, Jean-Yves JY; Hoang-Xuan, Khê K; Meredith, David M DM; Santagata, Sandro S; Duval, Alex A; Sanson, Marc M; Cherniack, Andrew D AD; Wen, Patrick Y PY; Reardon, David A DA; Marabelle, Aurélien A; Park, Peter J PJ; Idbaih, Ahmed A; Beroukhim, Rameen R; Bandopadhayay, Pratiti P; Bielle, Franck F; Ligon, Keith L KL
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N
TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Oncotarget
Gray, Phillip N PN; Tsai, Pei P; Chen, Daniel D; Wu, Sitao S; Hoo, Jayne J; Mu, Wenbo W; Li, Bing B; Vuong, Huy H; Lu, Hsiao-Mei HM; Batth, Navanjot N; Willett, Sara S; Uyeda, Lisa L; Shah, Swati S; Gau, Chia-Ling CL; Umali, Monalyn M; Espenschied, Carin C; Janicek, Mike M; Brown, Sandra S; Margileth, David D; Dobrea, Lavinia L; Wagman, Lawrence L; Rana, Huma H; Hall, Michael J MJ; Ross, Theodora T; Terdiman, Jonathan J; Cullinane, Carey C; Ries, Savita S; Totten, Ellen E; Elliott, Aaron M AM
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M