Prevalence, prognosis, and health care resource utilization in carriers of pathogenic germline variants in BRCA1/2 with incident early-stage breast cancer: a Finnish population-based study.

ABSTRACT:

Background and purpose

Data on real-world prevalence and outcomes in patients diagnosed with pathogenic germline variants in BRCA1 or BRCA2 (gBRCAm) breast cancer is sparse.

Material and methods

An observational cohort study including all patients diagnosed with incident early-stage breast cancer and recorded in Helsinki University Hospital data lake 2012-2022, accounting for one-third of the Finnish breast cancer patient population.

Results

Among 14,696 incident early-stage breast cancer patients, 11.2% (n = 1,644) were tested for gBRCAm. Of the tested population, 7.4% (n = 122) carried gBRCAm. Of the 122 gBRCAm patients, 95.1% (n = 116) were women, with a median age at diagnosis of 46.4 years. Among the same patient group, HER2 status was available for 87.7% (n = 10

SUBMITTER: Karihtala P 

PROVIDER: S-EPMC11445600 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature