MLH1 c.1038+900C>T

Variant ID: 3-37062854-C-T

NM_000249.3(MLH1):c.1038+900C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3774339
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd
Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T
Publication Date: 2012-07

Variant appearance in text: rs3774339
PubMed Link: 22658618
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.

Gynecologic Oncology
Lacey, James V JV; Yang, Hannah H; Gaudet, Mia M MM; Dunning, Alison A; Lissowska, Jolanta J; Sherman, Mark E ME; Peplonska, Beata B; Brinton, Louise A LA; Healey, Catherine S CS; Ahmed, Shahana S; Pharoah, Paul P; Easton, Douglas D; Chanock, Stephen S; Garcia-Closas, Montserrat M
Publication Date: 2011-02

Variant appearance in text: rs3774339
PubMed Link: 21093899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Plos One
Mrkonjic, Miralem M; Roslin, Nicole M NM; Greenwood, Celia M CM; Raptis, Stavroula S; Pollett, Aaron A; Laird, Peter W PW; Pethe, Vaijayanti V VV; Chiang, Theodore T; Daftary, Darshana D; Dicks, Elizabeth E; Thibodeau, Stephen N SN; Gallinger, Steven S; Parfrey, Patrick S PS; Younghusband, H Banfield HB; Potter, John D JD; Hudson, Thomas J TJ; McLaughlin, John R JR; Green, Roger C RC; Zanke, Brent W BW; Newcomb, Polly A PA; Paterson, Andrew D AD; Bapat, Bharati B
Publication Date: 2010-10-13

Variant appearance in text: rs3774339
PubMed Link: 20967208
Variant Present in the following documents:
  • pone.0013314.s001.xls, sheet 1
View BVdb publication page