Revista de histología molecular y fisiología médica

Female Carriers of Germline Pathogenic

Abstract

Evron Eitan

Females with germline BRCA1/BRCA2 (BRCA) P/LPV are given a tight surveillance programme from the ages of 25 to 30 that includes risk-reduction interventions and aims to detect certain cancer types early. Numerous national and international surveillance standards have been created and updated over the past 20 years by a wide range of countries from all over the world. Between January 1, 2015 and May 1, 2022, we searched for regulations that had been published. A few notable examples include variations in primary prevention recommendations, mammography screening in young (30 years) carriers, MRI screening in carriers older than 65 years, any breast imaging after a risk-reducing bilateral mastectomy, while pregnant or nursing and hormone replacement therapy. Beyond official advice, BRCA carriers' concerns also centre on fertility preservation, the management of menopausal symptoms in cancer survivors and pancreatic cancer surveillance; some of these fears lack adequate evidence to warrant evidence-based recommendations. This paper examines these unresolved issues and emphasises the importance of further investigation in facilitating the harmonisation of global standards for the best monitoring strategies. The unmet need for individualised risk assessment and follow-up in BRCA P/LPV carriers is also brought to light.