Associated Papers
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J et al.
The Lancet. Oncology, 2023
36436516 (PubMed )
Supplement: mmc1.pdf
CDH1 germline mutations in families with hereditary lobular breast cancer.
Girardi A et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2022
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
Massari G et al.
Cancers, 2021
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.
Davidson AL et al.
Human Mutation, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D et al.
Bmc Medical Genetics, 2018
30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 949_variants
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AD
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
29156750 (PubMed )
Supplement: oncotarget-08-85680-s002.xlsx › CDH1
Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Lindqvist CM et al.
Oncotarget, 2016
27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.
Schrader KA et al.
Journal of Medical Genetics, 2011
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