MLH1 c.1367C>A ;(p.S456*)

Variant ID: 3-37067456-C-A

NM_000249.3(MLH1):c.1367C>A;(p.S456*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tumor genome analysis includes germline genome: are we ready for surprises?

International Journal Of Cancer
Catenacci, Daniel V T DV; Amico, Andrea L AL; Nielsen, Sarah M SM; Geynisman, Daniel M DM; Rambo, Brittany B; Carey, George B GB; Gulden, Cassandra C; Fackenthal, Jim J; Marsh, Robert D RD; Kindler, Hedy L HL; Olopade, Olufunmilayo I OI
Publication Date: 2015-04-01

Variant appearance in text: MLH1: S456*
PubMed Link: 25123297
Variant Present in the following documents:
  • ijc0136-1559.pdf
  • ijc0136-1559-sd1.pdf
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: MLH1: S456*
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page



Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One
De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A
Publication Date: 2013

Variant appearance in text: MLH1: 1367C>A; Ser456*
PubMed Link: 24278394
Variant Present in the following documents:
  • Main text
  • pone.0081194.pdf
View BVdb publication page