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: MSH2: 1226_1227del; rs63750086
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: MSH2: 1226_1227del; Gln409fs
Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.
International Journal Of Molecular Sciences
Bu, Rong R; Siraj, Abdul K AK; Parvathareddy, Sandeep Kumar SK; Iqbal, Kaleem K; Azam, Saud S; Qadri, Zeeshan Z; Al-Rasheed, Maha M; Haqawi, Wael W; Diaz, Mark M; Alobaisi, Khadija K; Annaiyappanaidu, Padmanaban P; Siraj, Nabil N; AlHusaini, Hamed H; Alomar, Osama O; Al-Badawi, Ismail A IA; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS
Publication Date: 2022-10-14
Variant appearance in text: MSH2: 1226_1227delAG; Q409Rfs
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: MSH2: 1226_1227delAG; Gln409Argfs; rs63750086
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01
Variant appearance in text: MSH2: 1226_1227delAG; Gln409fs
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).
Muir-Torre Syndrome: The Importance of a Detailed Family History.
Case Reports In Ophthalmology
Burris, Christopher K H CKH; Rodriguez, Maria E ME; Raven, Meisha L ML; Reddy, Devasis N DN; Xu, Yaohui G YG; Wiggs, Janey L JL; Potter, Heather D HD; Albert, Daniel M DM
Microsatellite instability in prostate cancer by PCR or next-generation sequencing.
Journal For Immunotherapy Of Cancer
Hempelmann, Jennifer A JA; Lockwood, Christina M CM; Konnick, Eric Q EQ; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL; Montgomery, Bruce B; Nelson, Peter S PS; Klemfuss, Nola N; Salipante, Stephen J SJ; Pritchard, Colin C CC
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05
Variant appearance in text: MSH2: 1226_1227delAG; Gln409Argfs*7
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Guedes, Liana B LB; Antonarakis, Emmanuel S ES; Schweizer, Michael T MT; Mirkheshti, Nooshin N; Almutairi, Fawaz F; Park, Jong Chul JC; Glavaris, Stephanie S; Hicks, Jessica J; Eisenberger, Mario A MA; De Marzo, Angelo M AM; Epstein, Jonathan I JI; Isaacs, William B WB; Eshleman, James R JR; Pritchard, Colin C CC; Lotan, Tamara L TL
Publication Date: 2017-11-15
Variant appearance in text: MSH2: 1226_1227del; Q409Rfs
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: MSH2: 1226_1227delAG; Gln409ArgfsX7
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
Publication Date: 2015-12-20
Variant appearance in text: MSH2: 1226_1227delAG; Q409Rfs
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Human Mutation
Watson, Christopher M CM; Crinnion, Laura A LA; Morgan, Joanne E JE; Harrison, Sally M SM; Diggle, Christine P CP; Adlard, Julian J; Lindsay, Helen A HA; Camm, Nick N; Charlton, Ruth R; Sheridan, Eamonn E; Bonthron, David T DT; Taylor, Graham R GR; Carr, Ian M IM
Publication Date: 2014-04
Variant appearance in text: MSH2: 1226_1227del; Gln409Argfs*7
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
Publication Date: 2007-05-21
Variant appearance in text: MSH2: 1226_1227del; Q409RfsX7