Hereditary Breast and Ovarian Cancer Awareness Week: 9 studies in the spotlight

An estimated 750,000 American women harbor an inherited BRCA mutation, which elevates their risk for developing breast and ovarian cancers.

However, because only about 10% of these woman are aware of their BRCA status, the majority do not understand their genetic predisposition for these malignancies.

In conjunction with Hereditary Breast and Ovarian Cancer Awareness Week — observed from Sept. 27 through Oct. 3 — HemOnc Today recaps nine key studies it has covered in the past year related to screening and treatment of women with BRCA and other mutations known to increase cancer risk.

1. Universal BRCA testing may not be worth cost

Universal BRCA testing may not be cost-effective due to the rarity of these mutations and cost of testing, Patricia A. Ganz, MD, director of the division of cancer prevention and control research at UCLA Jonsson Comprehensive Cancer Center, and Elisa Long, PhD, assistant professor at UCLA Anderson School of Management, wrote in JAMA Oncology. Based on the assumption that one in 400 women carry a BRCA mutation, the cost of screening would need to drop by 90% to be cost-effective for the entire population, Ganz and Long wrote. Read more

2. RAD51 mutations may increase risk for epithelial ovarian cancer

Results of a case-control study suggest RAD51C and RAD51D served as moderate ovarian cancer susceptibility genes and should be considered alongside BRCA1 and BRCA2 in routine clinical genetic testing for epithelial ovarian cancer. RAD51 mutation carriers had a greater probability than noncarriers of having a family history of ovarian cancer. Read more

3. Risk calculator an accurate, cost-effective prescreening tool for PTEN mutations

The PTEN Cleveland Clinic score appeared to be a cost-effective prescreening tool to identify patients with Cowden-like disease who are appropriate candidates for PTEN germline mutation testing. Use of the Cleveland Clinic score at a threshold of 15 to prescreen patients for PTEN-gene testing costs $11,425 to detect one mutation, which was the most inexpensive option compared with no testing at all. Read more

4. PALB2 mutations may increase breast cancer mortality risk

Women who harbor a PALB2 mutation face an increased risk for breast cancer and a potentially increased risk for breast cancer mortality compared with noncarriers. A significantly higher proportion of women with breast cancer who harbor PALB2 mutations died during follow-up, and significantly fewer achieved 10-year survival. Read more

5. Oophorectomy may decrease BRCA1-mutated breast cancer mortality

Women with ER-negative breast cancer who harbor BRCA1 mutations may derive a survival benefit from oophorectomy. Women with a BRCA1 mutation demonstrated a significant reduction in disease-related mortality after ovary removal, particularly if they underwent the procedure within 2 years of cancer diagnosis. Read more

6. Breast, ovarian cancer risks vary by BRCA mutation location, type

The risks for breast and ovarian cancers varied based on the type and location of BRCA1 and BRCA2 mutations, according to results of an observational study. Three breast cancer cluster regions were located for BRCA1 carriers. The regions were located at c.179 to c.505, c.4328 to c.4945, and c.5261 to c.5563. Researchers identified an ovarian cancer cluster for BRCA1 from c.1380 to c.4062. Read more

7. BRCA testing has ‘clear role’ for triple-negative breast cancer

The high prevalence of deleterious mutations in predisposition genes in patients with triple-negative breast cancer unselected for family history suggests germline genetic testing for BRCA1 and BRCA2 mutations may be appropriate in this population. A significant proportion of BRCA1 mutation carriers had a family history of breast cancer or ovarian cancer. BRCA2 mutations were associated with a family history of ovarian cancer. However, mutations in non-BRCA1/2 genes were not associated with a family history of breast or ovarian cancers. Read more

8. Salpingectomy may reduce risk for ovarian cancer

Surgical removal of the fallopian tubes may help reduce a woman’s risk for ovarian cancer even if her ovaries are left intact. These findings support prior research that suggests a considerable proportion of ovarian cancers begin in the fallopian tubes or uterus, potentially contributing to late-stage diagnoses and poor outcomes. Read more

9. Women with BRCA-associated ovarian cancer have low risk for subsequent breast cancer

Women with epithelial ovarian cancer who harbor BRCA mutations appear to be at low risk for developing breast cancer, results of a retrospective database review suggest. The findings indicate current breast cancer surveillance protocols in this patient population may need to be reassessed, according to Alexandra Gangi, MD, of the division of surgical oncology at Cedars-Sinai Medical Center, and colleagues. Read more