MSH6 c.3172+1G>T

Variant ID: 2-48028295-G-T

NM_000179.2(MSH6):c.3172+1G>T

This variant was identified in 8 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: 3172+1G>T; rs587779255
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Prognostication of early-onset endometrioid endometrial cancer based on genome-wide DNA methylation profiles.

Journal Of Gynecologic Oncology
Hirano, Takuro T; Arai, Eri E; Fujimoto, Mao M; Nakayama, Yuji Y; Tian, Ying Y; Ito, Nanako N; Makabe, Takeshi T; Yamagami, Wataru W; Susumu, Nobuyuki N; Aoki, Daisuke D; Kanai, Yae Y
Publication Date: 2022-11

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 36047377
Variant Present in the following documents:
  • jgo-33-e74-s005.xls, sheet 1
View BVdb publication page



Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery
Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT
Publication Date: 2022-11-02

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 35960210
Variant Present in the following documents:
  • bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10
View BVdb publication page



Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.

Genes, Chromosomes & Cancer
Sukhanova, Madina M; Obeidin, Farres F; Streich, Lukas L; Alexiev, Borislav A BA
Publication Date: 2022-11

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 35655404
Variant Present in the following documents:
  • Main text
  • GCC-61-653.pdf
View BVdb publication page



Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Oncotarget
Hirasawa, Akira A; Imoto, Issei I; Naruto, Takuya T; Akahane, Tomoko T; Yamagami, Wataru W; Nomura, Hiroyuki H; Masuda, Kiyoshi K; Susumu, Nobuyuki N; Tsuda, Hitoshi H; Aoki, Daisuke D
Publication Date: 2017-12-22

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 29348823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Hereditary Cancer In Clinical Practice
Talseth-Palmer, Bente A BA; McPhillips, Mary M; Groombridge, Claire C; Spigelman, Allan A; Scott, Rodney J RJ
Publication Date: 2010-05-21

Variant appearance in text: MSH6: 3172+1G>T
PubMed Link: 20487569
Variant Present in the following documents:
  • Main text
  • 1897-4287-8-5.pdf
View BVdb publication page