Women who have close
relatives with breast cancer but who test
negative for key genetic mutations associated
with the disease are still at increased
risk of developing breast cancer, researchers
report.
The study found that even if tests
fail to detect the breast cancer-linked
BRCA1 and BRCA2 gene mutations in these
women, they are still about three times
more likely to develop breast cancer by
age 50 than women in the general population.
These women should be regularly screened
for breast cancer starting at ages 35
to 40, advised researchers at St. Mary's
Hospital in Manchester, United Kingdom.
They assessed the families of 277 women
with faults in the BRCA1 and BRCA2 genes.
Of those 277 women, 190 had breast cancer,
48 had ovarian cancer, and 33 had both
types of cancer. Six of the women were
cancer-free.
Of the women's 531 female relatives tested
for faults in the BRCA1 and BRCA2 genes,
49 percent tested negative. Of those who
tested negative, 28 developed breast cancer
and four developed ovarian cancer.
Faults in the BRCA1 and BRCA2 genes account
for about 5 percent of all diagnosed breast
cancer cases in developed countries. However,
faults in these genes greatly increase
a woman's risk of developing early breast
and/or ovarian cancer compared with women
in the general population.
The findings were published in the November
issue of the Journal of Medical Genetics.