MSH2 c.795_853del ;(p.A266Lfs*5)

Variant ID: 2-47641410-TTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCA-T

NM_000251.2(MSH2):c.795_853del;(p.A266Lfs*5)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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
PubMed Link: 35441217
Variant Present in the following documents:
  • Main text
  • ddac089.pdf
  • hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 1
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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03

Variant appearance in text: MSH2: Val265_Gln314del
PubMed Link: 33630411
Variant Present in the following documents:
  • CAC2-41-218-s001.xlsx, sheet 3
  • CAC2-41-218-s001.xlsx, sheet 1
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Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

Cancers
Cuatrecasas, Míriam M; Gorostiaga, Iñigo I; Riera, Cristina C; Saperas, Esteban E; Llort, Gemma G; Costa, Irmgard I; Matias-Guiu, Xavier X; Carrato, Cristina C; Navarro, Matilde M; Pineda, Marta M; Dueñas, Núria N; Brunet, Joan J; Marco, Vicente V; Trias, Isabel I; Busteros, José Ignacio JI; Mateu, Gemma G; Balaguer, Francesc F; Fernández-Figueras, María-Teresa MT; Esteller, Manel M; Musulén, Eva E
Publication Date: 2020-09-29

Variant appearance in text: MSH2: Val265_Gln314del
PubMed Link: 33003511
Variant Present in the following documents:
  • cancers-12-02803-s001.pdf
View BVdb publication page



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
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Journal Of Clinical Medicine
Álvarez, Karin K; Orellana, Paulina P; De la Fuente, Marjorie M; Canales, Tamara T; Pinto, Eliana E; Heine, Claudio C; Solar, Benjamín B; Hurtado, Claudia C; Møller, Pål P; Kronberg, Udo U; Zarate, Alejandro José AJ; Dominguez-Valentin, Mev M; López-Köstner, Francisco F
Publication Date: 2020-06-15

Variant appearance in text: MSH2: V265_Q314del
PubMed Link: 32549215
Variant Present in the following documents:
  • Main text
  • jcm-09-01861.pdf
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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
PubMed Link: 29749045
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.pdf
View BVdb publication page



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
PubMed Link: 25117503
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.

British Journal Of Cancer
Pagin, A A; Zerimech, F F; Leclerc, J J; Wacrenier, A A; Lejeune, S S; Descarpentries, C C; Escande, F F; Porchet, N N; Buisine, M-P MP
Publication Date: 2013-05-28

Variant appearance in text: MSH2: Val265_Gln314del
PubMed Link: 23652311
Variant Present in the following documents:
  • Main text
  • bjc2013213a.pdf
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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
PubMed Link: 21636617
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 21056691
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 20682701
Variant Present in the following documents:
  • Main text
View BVdb publication page