MedTrace Logo

CDH1 Germline Mutations in Lobular Breast Cancer

NCT04206891 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 421

Last updated 2025-12-04

No results posted yet for this study

Summary

Invasive lobular breast carcinoma (ILBC) represents 5-15% of all invasive BCs. The CDH1 gene (OMIM no. 192090), located on the chromosome 16q22.1, encodes for the E-cadherin protein, a key regulator of cell adhesion. Loss of E-cadherin expression is frequently detected in LBC CDH1 germline loss-of-function mutations are associated with the autosomal dominant cancer-predisposition syndrome, hereditary diffuse gastric cancer (HDGC; OMIM no. 137215). The cumulative risk of LBC for women with a CDH1 mutation is estimated to be 42% (95% CI 23% to 68%) by 80 years, when it is a component of HDGC syndrome.

Recently, some authors described CDH1 germline mutations in women with in situ or ILBC with early onset (\<45 or \<50) and bilateral in situ or ILBC with no family history of HDGC. These results are opening a new scenario, suggesting that CDH1 could be a susceptibility gene for LBC in women without a family history of DGC.

The first aim of this study is to investigate prevalence of CDH1 in this specific population of women with early onset (\<45 or \<50) in situ or ILBC, bilateral LBC or LBC with no family history of HDGC.

Conditions

  • Lobular Breast Carcinoma
  • CDH1 Gene Inactivation

Sponsors & Collaborators

  • European Institute of Oncology

    lead OTHER

Principal Investigators

  • Giovanni Corso, MD · European Institute of Oncology

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-12-01
Primary Completion
2021-12-31
Completion
2025-11-26

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04206891 on ClinicalTrials.gov