Publications:

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: 1831delA; Ile611fs

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: 1831delA; Ile611fs

PubMed Link: 32841224

Variant Present in the following documents:

• Main text
• jciinsight-5-140698-s239.pdf
• jciinsight-5-140698.pdf

View BVdb publication page