MSH6 c.718C>A ;(p.R240=)

Variant ID: 2-48025840-C-A

NM_000179.2(MSH6):c.718C>A;(p.R240=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: MSH6: R240R
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53.

Cancers
Brondani, Vania Balderrama VB; Montenegro, Luciana L; Lacombe, Amanda Meneses Ferreira AMF; Magalhães, Breno Marchiori BM; Nishi, Mirian Yumie MY; Funari, Mariana Ferreira de Assis MFA; Narcizo, Amanda de Moraes AM; Cardoso, Lais Cavalca LC; Siqueira, Sheila Aparecida Coelho SAC; Zerbini, Maria Claudia Nogueira MCN; Denes, Francisco Tibor FT; Latronico, Ana Claudia AC; Mendonca, Berenice Bilharinho BB; Almeida, Madson Queiroz MQ; Lerario, Antonio Marcondes AM; Soares, Ibere Cauduro IC; Fragoso, Maria Candida Barisson Villares MCBV
Publication Date: 2020-03-07

Variant appearance in text: rs63750019
PubMed Link: 32156018
Variant Present in the following documents:
  • Main text
  • cancers-12-00621.pdf
View BVdb publication page