Hong Kong researchers have linked a new genetic mutation to higher risk of breast cancer in Chinese women, according to data presented at the European Breast Cancer Conference (EBCC), underway in Amsterdam and sponsored by the European Cancer Organization (ECCO).
Dr. Ava Kwong of the University of Hong Kong and colleagues conducted genetic testing on more than 1,000 patients chosen from the Hong Kong Hereditary Breast Cancer Family Registry. The family histories of these women suggested they were at high risk for breast cancer, but all were negative for four of the most common mutations: BRCA1, BRCA2, TP53, and PTEN.
Instead, they tested positive for the RECQL mutation, which is typically associated with poor prognoses in liver, pancreatic, and head and neck cancers across all populations, according to the researchers.
The mutation was present in 54% of southern Chinese women -- a level of incidence that may make testing for the RECQL mutation advisable in women of Chinese origin with a family history of breast cancer, they noted.
