Next-Generation Sequencing-based Germline and Somatic Genetic Testing in Triple-negative Breast Cancer

For patients with triple negative breast cancer, implementation of genetic testing in decision making might impact both risk management for the patient and her family, but also, importantly, therapeutic management. Identifying genetically predisposed subjects dictates risk-reducing strategies that may imply bilateral salpingo-oophorectomy and mastectomy or long term medical approaches. In the advanced setting, genetic testing can influence decision for medical therapy (e.g. use of platinum derivatives, poly-ADP ribose polymerase inhibitors (PARP inhibitors) in breast cancer patients with breast cancer susceptibility gene (BRCA) mutation. The selection of patients for testing has long relied on the presence of a strong family history of breast and ovarian cancer. It is now clear that this criterion will result in substantial numbers of those with a BRCA mutation being missed. Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with ovarian cancer. Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostic platforms can be routinely implemented in the diagnostic workflow. This is the scope of the present study.

Sex

All

Minimum age

18 Years

Maximum age

60 Years

Inclusion Criteria:

1. age between 18 and 60 years
2. has signed informed consent
3. histologically confirmed triple negative breast cancer (ER (Estrogen Receptors) \< 1%, PgR (Progesterone Receptors) \< 1%, HER2/neu negative (IHC 0, 1+ or 2+ FISH negative).
4. Stage I-III
5. Able to undergo surgery (primary or post-neoadjuvant)
6. Availability of surgical/bioptic material within 6 months from enrolment

Exclusion Criteria:

* unable or unwilling to receive genetic counselling