Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.

ABSTRACT:

Background

Colorectal cancer (CRC) patients diagnosed with Lynch syndrome (LS) are recommended genetic testing. Increasing numbers of germline variants involved in homologous recombination have been identified in suspected LS patients. This study compared phenotypic the characteristics of suspected LS patients carrying BRCA and BRCA-like variants with those of LS patients.

Methods

Forty-two patients carrying pathogenic variants of DNA mismatch repair (MMR) genes (MMR group), 9 carrying BRCA variants, and 11 carrying BRCA-like variants (BRCA/BRCA-like group) who met LS clinical criteria were enrolled in this study. Clinical characteristics, pedigrees, and survival rates were compared and BRCA variants were analyzed.

Results

The earliest CRC-onset age and tumor differen

SUBMITTER: Xu Y 

PROVIDER: S-EPMC7434599 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature