PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer.

ABSTRACT:

Background

The pathogenic/likely pathogenic (P/LP) variant detection rate and profile of PALB2, the third most important breast cancer gene, may vary between different populations.

Methods

PALB2 was analyzed in peripheral blood samples of three independent cohorts: prospectively between September 2021 and March 2023 (i) in 1280 consecutive patients with breast and/or ovarian cancer (HBOC), (ii) in 568 patients with other cancers (controls), and retrospectively, (iii) in 191 young breast cancer (<33 years, yBC) patients. These data were compared with data of 134,187 non-cancer individuals retrieved from the Genome Aggregation Database.

Results

Altogether, 235 cases (235/1280; 18.3%) carried at least one P/LP variant in one of the HBOC susceptibility genes

SUBMITTER: Butz H 

PROVIDER: S-EPMC10487218 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature