Rs. Cornelis et al., AGE AT DIAGNOSIS AS AN INDICATOR OF ELIGIBILITY FOR BRCA1 DNA TESTINGIN FAMILIAL BREAST-CANCER, Human genetics, 95(5), 1995, pp. 539-544
We searched for criteria that could indicate breast cancer families wi
th a high prior probability of being caused by the breast/ovarian canc
er susceptibility locus BRCA1 on chromosome 17. To this end, we perfor
med a linkage study with 59 consecutively collected Dutch breast cance
r families, including 16 with at least one case of ovarian cancer. We
used an intake cut-off of at least three first-degree relatives with b
reast and/or ovarian cancer at any age. Significant evidence for linka
ge was found only among the 13 breast cancer families with a mean age
at diagnosis of less than 45 years. An unexpectedly low proportion of
the breast-ovarian cancer families were estimated to be linked to BRCA
1, which could be due to a founder effect in the Dutch population. Giv
en the expected logistical problems in clinical management now that BR
CA1 has been identified, we propose an interim period in which only fa
milies with a strong positive family history for early onset breast an
d/or ovarian cancer will be offered BRCA1 mutation testing.