TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

AbstractEarly-onset breast cancer may be due to Li –Fraumeni Syndrome (LFS). Current national and international guidelines recommend thatTP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31  years. However, large studies investigatingTP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested forTP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30  years of age were tested forTP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenicTP53 sequence variant. AmongBRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, theTP53 mutation frequency was<  1% (2/233). Taking into consideration thatTP53 mutation prevalence was comparable or even higher in some studies selecting patients with breast cancer onset at older ages or HER2-positive breast cancers, raises the question of whether a very early age of onset is an appropriate singleTP53 genetic testing criterion.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research