About 15% of women with ovarian cancer are found to carry a germline mutation in the BRCA gene. That’s the gene also associated with an increased risk for breast cancer in women, prostate cancers in men and gastrointestinal cancers and melanoma in both men and women.
Typically, the risks for carrying a BCRA mutation are predicted based on personal and family history of BRCA-related cancers.
Now, data from Canadian researchers suggests that, among women with ovarian cancer, the tumor type itself – not family and personal history – is most predictive of BRCA risk.
In their study of 131 women with ovarian cancer, 25% of those with high-grade serous ovarian cancers had a BRCA mutation. In contrast, none of the women with other tumor types carried the mutant genes. Had they instead referred these same patients for standard-of-care genetic counseling and screening, a significant number of BRCA carriers would have gone undetected – 35% if the counselor was their doctor and 20% if they had seen a trained genetic counselor.
While their data is similar to other studies in terms of the percentage of serous cancers associate with the BRCA gene, none to date has shown such a striking difference between tumor type and BRCA status. In this regard, it’s important to note that the researchers used the latest scientific methods for determining tumor type, basing it not just on morphology (what a tumor looks like), but on special biochemical tests (sort of like fingerprints).
The authors are recommending routine BCRA screening in all women with high grade serous ovarian cancer, regardless of their family history.
In view of the strong association and high incidence (25%) of underlying BRCA1 and BRCA2 mutations in women with high-grade serous ovarian (pelvic) carcinoma, genetic assessment for consideration of BRCA1 and BRCA2 germline testing should be offered to all women diagnosed with this histologic subtype of ovarian cancer regardless of age or family history.
This makes sense to me.
Family history is often incomplete or erroneous. But knowing about BRCA status is important for both ovarian cancer patients and their families, who can use the information to tailor screening and preventive strategies to reduce their risk and allow for early detection and treatment of BRCA-related cancers.
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More from TBTAM on this topic
- Ovarian Cancer screening
- Ovarian Cancer Symptoms
- Sonograms and Ovarian Cancer Screening
- HRT and ovarian cancer risks
- Prophylactic Oophorectomy in BRCA carriers
More information on ovarian cancer and BRCA
