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: 3202C>T; R1068*; rs63749843
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: 3202C>T; Arg1068Ter
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
Publication Date: 2023-03
Variant appearance in text: MSH6: R1068X; rs63749843
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Tumor mutation burden determined by a 645-cancer gene panel and compared with microsatellite instability and mismatch repair genes in colorectal cancer.
Journal Of Gastrointestinal Oncology
Zhou, Zhaofei Z; Li, Kang K; Wei, Qiang Q; Chen, Lingxiang L; Shuai, You Y; Wang, Yajing Y; He, Kang K; Si, Lixiang L; Zhong, Yuejiao Y; Lu, Jianwei J
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: MSH6: 3202C>T; Arg1068Ter
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: MSH6: 3202C>T; Arg1068Ter
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
Publication Date: 2020-04
Variant appearance in text: MSH6: 3202C>T; Arg1068*
Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing.
Jnci Cancer Spectrum
Poulos, Rebecca C RC; Perera, Dilmi D; Packham, Deborah D; Shah, Anushi A; Janitz, Caroline C; Pimanda, John E JE; Hawkins, Nicholas N; Ward, Robyn L RL; Hesson, Luke B LB; Wong, Jason W H JWH
Identification of Lynch syndrome risk variants in the Romanian population.
Journal Of Cellular And Molecular Medicine
Iordache, Paul D PD; Mates, Dana D; Gunnarsson, Bjarni B; Eggertsson, Hannes P HP; Sulem, Patrick P; Benonisdottir, Stefania S; Csiki, Irma Eva IE; Rascu, Stefan S; Radavoi, Daniel D; Ursu, Radu R; Staicu, Catalin C; Calota, Violeta V; Voinoiu, Angelica A; Jinga, Mariana M; Rosoga, Gabriel G; Danau, Razvan R; Sima, Sorin Cristian SC; Badescu, Daniel D; Suciu, Nicoleta N; Radoi, Viorica V; Mates, Ioan Nicolae IN; Dobra, Mihai M; Nicolae, Camelia C; Kristjansdottir, Sigrun S; Jonasson, Jon G JG; Manolescu, Andrei A; Arnadottir, Gudny G; Jensson, Brynjar B; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; le Roux, Louise L; Johannsdottir, Hrefna H; Rafnar, Thorunn T; Halldorsson, Bjarni V BV; Jinga, Viorel V; Stefansson, Kari K
Publication Date: 2018-12
Variant appearance in text: MSH6: 3202C>T; Arg1068Ter
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08
Variant appearance in text: MSH6: 3202C>T; Arg1068Ter
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Goodfellow, Paul J PJ; Billingsley, Caroline C CC; Lankes, Heather A HA; Ali, Shamshad S; Cohn, David E DE; Broaddus, Russell J RJ; Ramirez, Nilsa N; Pritchard, Colin C CC; Hampel, Heather H; Chassen, Alexis S AS; Simmons, Luke V LV; Schmidt, Amy P AP; Gao, Feng F; Brinton, Louise A LA; Backes, Floor F; Landrum, Lisa M LM; Geller, Melissa A MA; DiSilvestro, Paul A PA; Pearl, Michael L ML; Lele, Shashikant B SB; Powell, Matthew A MA; Zaino, Richard J RJ; Mutch, David D
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Buchanan, Daniel D DD; Tan, Yen Y YY; Walsh, Michael D MD; Clendenning, Mark M; Metcalf, Alexander M AM; Ferguson, Kaltin K; Arnold, Sven T ST; Thompson, Bryony A BA; Lose, Felicity A FA; Parsons, Michael T MT; Walters, Rhiannon J RJ; Pearson, Sally-Ann SA; Cummings, Margaret M; Oehler, Martin K MK; Blomfield, Penelope B PB; Quinn, Michael A MA; Kirk, Judy A JA; Stewart, Colin J CJ; Obermair, Andreas A; Young, Joanne P JP; Webb, Penelope M PM; Spurdle, Amanda B AB