Skip to main content

Advertisement

Table 2 Mutations in breast cancer risk genes and number of positive diagnostic criteria for gene testing

From: Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

Mutated gene Number of diagnostic criteria
  0 1 2 3 Total
BRCA1 3 18 11 2 34
BRCA2 2 7 3 1 13
CHEK2 1 1 0 0 2
NBN 0 1 0 0 1
RAD51C 0 2 1 0 3
RAD51D 1 0 0 0 1
PALB2 2 0 0 0 2
ATM 1 0 0 0 2
Overall 10 29 15 3 57
  1. Each column delineates the number (0–3) of fulfilled diagnostic criteria for gene testing (0–3) for each of the risk-genes. One point was given each for diagnosis before age 35 years, for bi- or contralateral breast cancer/ ovarian cancer and for family history. Ten women out of 57 (17.5%) did not fulfill any of these criteria and would thus otherwise go untested