CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.

ABSTRACT:

Importance

Pathogenic or likely pathogenic (P/LP) germline CDH1 variants are associated with risk for diffuse gastric cancer and lobular breast cancer (LBC) in the so-called hereditary diffuse gastric cancer (HDGC) syndrome. However, in some circumstances, LBC can be the first manifestation of this syndrome in the absence of diffuse gastric cancer manifestation.

Objectives

To evaluate the frequency of germline CDH1 variants in women with the hereditary LBC (HLBC) phenotype, somatic CDH1 gene inactivation in germline CDH1 variant carriers' tumor samples, and the association of genetic profiles with clinical-pathological data and survival.

Design, setting, and participants

This single-center, longitudinal, prospective cohort study was conducted from January 1, 1997, to

SUBMITTER: Corso G 

PROVIDER: S-EPMC11040411 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature