MLH1 c.806C>A ;(p.S269*)

Variant ID: 3-37059012-C-A

NM_000249.3(MLH1):c.806C>A;(p.S269*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: MLH1: S269*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: MLH1: S269*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21

Variant appearance in text: MLH1: Ser269X
PubMed Link: 17453009
Variant Present in the following documents:
  • 6603754a.pdf
View BVdb publication page



Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

The American Journal Of Pathology
Hendriks, Yvonne Y; Franken, Patrick P; Dierssen, Jan Willem JW; De Leeuw, Wiljo W; Wijnen, Juul J; Dreef, Enno E; Tops, Carli C; Breuning, Martijn M; Bröcker-Vriends, Annette A; Vasen, Hans H; Fodde, Riccardo R; Morreau, Hans H
Publication Date: 2003-02

Variant appearance in text: MLH1: S269X
PubMed Link: 12547705
Variant Present in the following documents:
  • Main text
View BVdb publication page