MSH6 c.3907G>A ;(p.A1303T)

Variant ID: 2-48033696-G-A

NM_000179.2(MSH6):c.3907G>A;(p.A1303T)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH6: 3907G>A; A1303T; rs63751064
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MSH6: 3907G>A; A1303T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Cancer Research And Treatment
Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ
Publication Date: 2020-04

Variant appearance in text: MSH6: 3907G>A
PubMed Link: 32019284
Variant Present in the following documents:
  • crt-2019-207-suppl2.pdf
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: MSH6: A1303T
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: MSH6: A1303T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Cahill, Daniel P DP; Levine, Kymberly K KK; Betensky, Rebecca A RA; Codd, Patrick J PJ; Romany, Candice A CA; Reavie, Linsey B LB; Batchelor, Tracy T TT; Futreal, P Andrew PA; Stratton, Michael R MR; Curry, William T WT; Iafrate, A John AJ; Louis, David N DN
Publication Date: 2007-04-01

Variant appearance in text: MSH6: A1303T
PubMed Link: 17404084
Variant Present in the following documents:
  • Main text
View BVdb publication page



A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.

Cancer Research
Hunter, Chris C; Smith, Raffaella R; Cahill, Daniel P DP; Stephens, Philip P; Stevens, Claire C; Teague, Jon J; Greenman, Chris C; Edkins, Sarah S; Bignell, Graham G; Davies, Helen H; O'Meara, Sarah S; Parker, Adrian A; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Butler, Adam A; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Forbes, Simon S; Gorton, Matthew M; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathon J; Jenkinson, Andy A; Jones, David D; Kosmidou, Vivienne V; Laman, Ross R; Lugg, Richard R; Menzies, Andrew A; Perry, Janet J; Petty, Robert R; Raine, Keiran K; Richardson, David D; Shepherd, Rebecca R; Small, Alexandra A; Solomon, Helen H; Tofts, Calli C; Varian, Jennifer J; West, Sofie S; Widaa, Sara S; Yates, Andy A; Easton, Douglas F DF; Riggins, Gregory G; Roy, Jennifer E JE; Levine, Kymberly K KK; Mueller, Wolf W; Batchelor, Tracy T TT; Louis, David N DN; Stratton, Michael R MR; Futreal, P Andrew PA; Wooster, Richard R
Publication Date: 2006-04-15

Variant appearance in text: MSH6: 3907G>A; A1303T
PubMed Link: 16618716
Variant Present in the following documents:
  • Main text
View BVdb publication page