Women with breast cancer from small families may be unaware of genetic link

In collaboration with the Press Association

A new US study reveals that younger women with breast cancer and who have fewer female relatives, may be unaware they have a strong family history of the disease.

This may be because their female relatives died prematurely from another cause, or because families are getting smaller, so the information is not available.

According to researchers at the US-based treatment centre City of Hope, women in this situation who develop breast cancer before the age of 50 may miss out on genetic testing for breast cancer susceptibility genes, like BRCA1 and BRCA2.

Mutations in BRCA1 and BRCA2 genes account for a very small percentage (2-5%) of all breast cancers. But knowing if someone with early onset breast cancer carries a faulty BRCA gene can help shape treatment decisions and inform prognosis. It also has important implications for how future generations of their female relatives manage their cancer risk.

Although it is down to the individual clinician, women with early onset breast cancer are not routinely offered testing for BRCA gene mutations unless they have a strong family history of breast or ovarian cancer. So women with early onset breast cancer and a limited family structure may miss out on this important part of their diagnosis.

The researchers suggest that official genetic testing guidelines need to be broadened to include women in these unusual situations. The study is published in the Journal of the American Medical Association.