Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25
Variant appearance in text: MSH2: Val265_Gln314del
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: MSH2: Val265_Gln314del
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
Human Mutation
Evans, Daniel R DR; Venkitachalam, Srividya S; Revoredo, Leslie L; Dohey, Amanda T AT; Clarke, Erica E; Pennell, Julia J JJ; Powell, Amy E AE; Quinn, Erina E; Ravi, Lakshmeswari L; Gerken, Thomas A TA; Green, Jane S JS; Woods, Michael O MO; Guda, Kishore K
Publication Date: 2018-08
Variant appearance in text: MSH2: Val265_Gln314del
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: Val265_Gln314del
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
Familial Cancer
Rosty, Christophe C; Walsh, Michael D MD; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Mundt, Erin E; Gallinger, Steven S; Aronson, Melyssa M; Pollett, Aaron A; Baron, John A JA; Pearson, Sally S; Clendenning, Mark M; Walters, Rhiannon J RJ; Nagler, Belinda N BN; Crawford, William J WJ; Young, Joanne P JP; Winship, Ingrid I; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD
Publication Date: 2014-12
Variant appearance in text: MSH2: Val265_Gln314del
Determining the frequency of de novo germline mutations in DNA mismatch repair genes.
Journal Of Medical Genetics
Win, Aung Ko AK; Jenkins, Mark A MA; Buchanan, Daniel D DD; Clendenning, Mark M; Young, Joanne P JP; Giles, Graham G GG; Goldblatt, Jack J; Leggett, Barbara A BA; Hopper, John L JL; Thibodeau, Stephen N SN; Lindor, Noralane M NM
Publication Date: 2011-08
Variant appearance in text: MSH2: Val265_Gln314del
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Limburg, Paul J PJ; Harmsen, William S WS; Chen, Helen H HH; Gallinger, Steven S; Haile, Robert W RW; Baron, John A JA; Casey, Graham G; Woods, Michael O MO; Thibodeau, Stephen N SN; Lindor, Noralane M NM
Publication Date: 2011-06
Variant appearance in text: MSH2: Val265_Gln314del
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
Gut
Woods, M O MO; Younghusband, H B HB; Parfrey, P S PS; Gallinger, S S; McLaughlin, J J; Dicks, E E; Stuckless, S S; Pollett, A A; Bapat, B B; Mrkonjic, M M; de la Chapelle, A A; Clendenning, M M; Thibodeau, S N SN; Simms, M M; Dohey, A A; Williams, P P; Robb, D D; Searle, C C; Green, J S JS; Green, R C RC
Publication Date: 2010-10
Variant appearance in text: MSH2: Val265_Gln314del