Obstacles in genetic testing for germline BRCA1/2 pathogenic mutations in patients with primary breast and ovarian cancer in Switzerland.

ABSTRACT:

Purpose

Approximately 5-10% of breast and up to 25% of ovarian cancer cases are hereditary, predominantly associated with germline BRCA1/2 pathogenic variants. Identifying these mutations is essential for personalized treatment, prevention strategies, and cascade testing in families. However, integrating genetic testing into routine care faces substantial barriers globally and within Switzerland.

Methods

This retrospective, quantitative study analyzed 209 patients treated for non-mucinous ovarian carcinoma or primary breast cancer at the Women's Cantonal Hospital, Lucerne (2017-2022). All patients met Swiss clinical (SAKK) criteria for genetic testing, and recommendations for counseling were documented. Data were collected via anonymized questionnaires evaluating demographic

SUBMITTER: Braun C 

PROVIDER: S-EPMC12414081 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature