MLH1 c.129dup ;(p.S44Ifs*9)

Variant ID: 3-37038118-C-CA

NM_000249.3(MLH1):c.129dup;(p.S44Ifs*9)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: MLH1: 129dupA; Ser44Ilefs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Cancers
Golubicki, Mariano M; Díaz-Gay, Marcos M; Bonjoch, Laia L; Franch-Expósito, Sebastià S; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Carballido, Marcela M; Robbio, Juan J; Cisterna, Daniel D; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Castellví-Bel, Sergi S; Antelo, Marina M
Publication Date: 2021-03-12

Variant appearance in text: MLH1: 129dupA; Ser44fs
PubMed Link: 33809179
Variant Present in the following documents:
  • Main text
  • cancers-13-01259.pdf
View BVdb publication page



Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.

Jci Insight
Golubicki, Mariano M; Bonjoch, Laia L; Acuña-Ochoa, José G JG; Díaz-Gay, Marcos M; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Cisterna, Daniel D; Schubert, Stephanie A SA; Nielsen, Maartje M; van Wezel, Tom T; Goldberg, Yael Y; Pikarsky, Eli E; Robbio, Juan J; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Antelo, Marina M; Castellví-Bel, Sergi S
Publication Date: 2020-09-17

Variant appearance in text: MLH1: 129dupA; Ser44fs
PubMed Link: 32841224
Variant Present in the following documents:
  • Main text
  • jciinsight-5-140698-s239.pdf
  • jciinsight-5-140698.pdf
View BVdb publication page