MSH6 c.2625G>A ;(p.M875I)

Variant ID: 2-48027747-G-A

NM_000179.2(MSH6):c.2625G>A;(p.M875I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Breast Cancer Research : Bcr
Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M
Publication Date: 2023-06-14

Variant appearance in text: MSH6: 2625G>A; Met875Ile
PubMed Link: 37316882
Variant Present in the following documents:
  • 13058_2023_1655_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: MSH6: M875I
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient.

Scientific Reports
Phung, Tanya N TN; Lenkiewicz, Elizabeth E; Malasi, Smriti S; Sharma, Amit A; Anderson, Karen S KS; Wilson, Melissa A MA; Pockaj, Barbara A BA; Barrett, Michael T MT
Publication Date: 2020-07-22

Variant appearance in text: MSH6: M875I
PubMed Link: 32699259
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MSH6: M875I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07

Variant appearance in text: MSH6: 2625G>A; Met875Ile
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s003.xlsx, sheet 1
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: MSH6: M875I
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 13
View BVdb publication page