MSH6 c.3151G>A ;(p.V1051I)

Variant ID: 2-48028273-G-A

NM_000179.2(MSH6):c.3151G>A;(p.V1051I)

This variant was identified in 14 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: 3151G>A; V1051I; rs576269342
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MSH6: V1051I
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Leukemia
Arniani, Silvia S; Pierini, Valentina V; Pellanera, Fabrizia F; Matteucci, Caterina C; Di Giacomo, Danika D; Bardelli, Valentina V; Quintini, Martina M; Mavridou, Elena E; Lema Fernandez, Anair Graciela AG; Nardelli, Carlotta C; Moretti, Martina M; Gorello, Paolo P; Crescenzi, Barbara B; Romoli, Silvia S; Beacci, Donatella D; Cerrano, Marco M; Fracchiolla, Nicola N; Sica, Simona S; Forghieri, Fabio F; Giglio, Fabio F; Dargenio, Michela M; Elia, Loredana L; La Starza, Roberta R; Mecucci, Cristina C
Publication Date: 2022-11

Variant appearance in text: MSH6: 3151G>A
PubMed Link: 35974102
Variant Present in the following documents:
  • 41375_2022_1671_MOESM2_ESM.xlsx, sheet 16
View BVdb publication page



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: 3151G>A; V1051I; rs576269342
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3151G>A; Val1051Ile; rs576269342
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches.

Frontiers In Cell And Developmental Biology
Laprovitera, Noemi N; Salamon, Irene I; Gelsomino, Francesco F; Porcellini, Elisa E; Riefolo, Mattia M; Garonzi, Marianna M; Tononi, Paola P; Valente, Sabrina S; Sabbioni, Silvia S; Fontana, Francesca F; Manaresi, Nicolò N; D'Errico, Antonia A; Pantaleo, Maria A MA; Ardizzoni, Andrea A; Ferracin, Manuela M
Publication Date: 2021

Variant appearance in text: MSH6: V1051I
PubMed Link: 34178989
Variant Present in the following documents:
  • Main text
  • fcell-09-666156.pdf
View BVdb publication page



The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Publication Date: 2021-02

Variant appearance in text: MSH6: V1051I
PubMed Link: 33222100
Variant Present in the following documents:
  • 13353_2020_594_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Frontiers In Oncology
Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG
Publication Date: 2020

Variant appearance in text: MSH6: 3151G>A
PubMed Link: 32547938
Variant Present in the following documents:
  • Main text
  • fonc-10-00666.pdf
View BVdb publication page



Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice
Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA
Publication Date: 2019

Variant appearance in text: MSH6: V1051I
PubMed Link: 31660093
Variant Present in the following documents:
  • Main text
  • 13053_2019_Article_128.pdf
View BVdb publication page



Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine
Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K
Publication Date: 2019-09

Variant appearance in text: MSH6: 3151G>A; Val1051Ile; rs576269342
PubMed Link: 31386297
Variant Present in the following documents:
  • CAM4-8-5534-s001.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 3151G>A; Val1051Ile
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs576269342
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
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: V1051I
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
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: 3151G>A; Val1051Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page