Hereditary breast and ovarian cancer

Genetic testing is clinically relevant for the following indications, including but not limited to:

• Breast cancer diagnosed at 65 years or younger, or at an older age with a supportive personal or family history
• Very early onset breast cancer, diagnosed at 30 years or younger, or triple-negative breast cancer
• Epithelial ovarian, fallopian tube or peritoneal cancer
• A personal or family history assessed with an established risk-assessment tool such as the

Testing is typically requested by gynaecologists, oncologists, breast surgeons, general practitioners and clinical geneticists.

Testing is used when a personal or family cancer history suggests hereditary predisposition, and it informs surveillance decisions and risk-reducing options.

A pathogenic or likely pathogenic variant identifies an inherited predisposition and names the gene involved. A variant of uncertain significance (VUS) is an unclear finding: evidence is insufficient to classify it as likely benign or likely pathogenic. A VUS does not guide management, and carriers are followed for reclassification. In other patients, no pathogenic variant is detected. The presence of a pathogenic variant cannot, however, be entirely excluded: the causative change may lie in a gene not yet linked to the condition, or in a regulatory region that current methods cannot reliably capture.

Each variant is classified according to ACMG/AMP criteria.

When a pathogenic or likely pathogenic variant is identified, risk-adapted surveillance and, where indicated, risk-reducing options can be discussed; the options depend on the gene.

is an important part of the testing process. It helps patients and families understand the test, interpret results, and make well-informed medical decisions, and it supports physicians in delivering informed care. Availability of genetic counselling services may vary by country, so please to check access in your region.

Testing uses next-generation sequencing (NGS) based multi-gene panels as well as CNV detection methods like MLPA and lcWGS.

• Jurgiel WA, Panasiuk B, Posmyk R. Hereditary ovarian cancer. Discover oncology. 2026;17(1):260. doi: 10.1007/s12672-026-04418-1. PMID: .
• Krückel A, Gocke J, Hörner M, Keller K, Müller C, Brückner L, et al. Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications. Archives of gynecology and obstetrics. 2026;313(1):38. doi: 10.1007/s00404-025-08270-6. PMID: .
• Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, et al. Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer. Breast care. 2022;17(2):199-207. doi: 10.1159/000516376. PMID: .
• Bedrosian I, Somerfield MR, Achatz MI, Boughey JC, Curigliano G, Friedman S, et al. Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2024;42(5):584-604. doi: 10.1200/JCO.23.02225. PMID: .
• Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, et al. High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Journal of medical genetics. 2022;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. PMID: .
• Ghose A, Bolina A, Mahajan I, Raza SA, Clarke M, Pal A, et al. Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy. International journal of environmental research and public health. 2022;19(19). doi: 10.3390/ijerph191912057. PMID: .