Keuzes bij erfelijk risico op borstkanker

In this article, we describe a woman diagnosed as being a BRCA1 mutation carrier at 32 years of age and a BRCA2 mutation carrier diagnosed at age 63 who each opted for MRI screening instead of a preventive mastectomy. In both women, breast cancer was detected by MRI: not visible on the mammogram, < 1 cm and node negative. Both women opted for breast-conserving treatment. We compare their screening strategies and therapy choices with those of a woman with a familial risk who was diagnosed with breast cancer at age 52. We also discuss the relevant literature.

For BRCA1/2-mutation carriers, bilateral preventive oophorectomy, combined with either MRI screening or a bilateral preventive mastectomy, can contribute considerably to a better life expectancy. Both options are nearly equally effective. Breast-conserving treatment can be a safe choice for young BRCA1/2 mutation carriers despite a 40% risk of contralateral cancer within 10 years and possibly a higher risk of developing a second ipsilateral cancer. The contribution of mammography to early breast cancer detection is small for MRI-screened BRCA1 carriers below 40 years of age; less than 10% according to the current literature. The high tumour growth rate and high breast cancer incidence in BRCA1/2 carriers above the age of 60 are arguments to screen more frequently than the current mammogram every 2 years. The optimal screening strategy for women with a familial risk either yearly MRI or mammogram - is still unknown and is being investigated in a randomized controlled trial (www.famrisc.nl). The age of onset of breast cancer is determined by both family history and risk group. If known, the ages of family members at diagnosis may assist in determining at what age preventive measures should be started for high-risk women.

Conflict of interest: none declared. Financial support: none declared.