MSH6 c.3143A>G ;(p.Q1048R)

Variant ID: 2-48028265-A-G

NM_000179.2(MSH6):c.3143A>G;(p.Q1048R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: MSH6: 3143A>G; Q1048R
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: MSH6: 3143A>G
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Wang, Tao T; Lee, Lik Hang LH; Vyas, Monika M; Zhang, Liying L; Ganesh, Karuna K; Firat, Canan C; Segal, Neil H NH; Desai, Avni A; Hechtman, Jaclyn F JF; Ntiamoah, Peter P; Weiser, Martin R MR; Markowitz, Arnold J AJ; Vakiani, Efsevia E; Klimstra, David S DS; Stadler, Zsofia K ZK; Shia, Jinru J
Publication Date: 2019-10

Variant appearance in text: MSH6: Q1048R
PubMed Link: 31175329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget
Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD
Publication Date: 2018-05-22

Variant appearance in text: MSH6: 3143A>G
PubMed Link: 29876005
Variant Present in the following documents:
  • oncotarget-09-25517-s001.pdf
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: MSH6: Q1048R
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page