BRCA Mutations Confer Risk, Even in Absence of Family History

(October 15, 2015)  According to a Japanese study published in Cancer, BRCA1/2 gene mutations may be associated with an inherited risk of ovarian cancer regardless of family history.

The researchers examined 95 women with ovarian cancer who were treated from 2013 to 2015.  BRCA1/2 gene mutation tests were performed with next-generation sequencing in order to determine a link between germline mutations and hereditary risk. Among those patients, 12 were found to have mutations, with 5 in theBRCA1 group and 7 in the BRCA2 group.

In 36 patients who had a family history of the disease, 6 were found to have mutations in BRCA1 andBRCA2. Six of the 59 cases without family history were also found to have BRCA1/2 germline mutations, and there was no statistical difference between the groups.

The researchers also found that patients with mutations were diagnosed at advanced stages and had poor prognostic histological subtypes.  The authors concluded that “this finding indicates that BRCA1/2 genetic testing should be performed for all patients with ovarian cancers.”

The Society of Gynecologic Oncology recommends that all women diagnosed with ovarian cancer, regardless of family history, receive genetic counseling and be offered testing.

Read the abstract here.