Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS3
A Novel Deleterious Variant and a Founder Effect in Four New Families of MBD4-Associated Neoplasia Syndrome Recruited Over a Period of 20 Years.
Querido I et al.
Clinical Genetics, 2026
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Villy MC et al.
Journal of the National Cancer Institute, 2024
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
Derrien AC et al.
Journal of the National Cancer Institute, 2021
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.
Wu RC et al.
Cold Spring Harbor Molecular Case Studies, 2017
29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
MBD4 mutations are rare in gastric carcinomas with microsatellite instability.
Pinto M et al.
Cancer Genetics and Cytogenetics, 2003
Select a paper to view details