Knowing BRCA status associated with better breast cancer outcomes even without surgery

July 08, 2019

Ashkenazi Jewish women have a 1-in-40 chance of carrying the BRCA mutation and these BRCA-positive women have an 80 percent lifetime risk of developing breast or ovarian cancer. A study by University of Colorado Cancer Center and Shaarei Zedek Medical Center, Israel presented at the European Society of Human Genetics Annual Meeting 2019 shows the importance of healthy women knowing their BRCA status, even when these women choose not to undergo prophylactic mastectomy: Of 63 Ashkenazi Jewish women unaware of their BRCA+ status at the time of breast cancer diagnosis, and 42 women who were aware they were BRCA+ prior to their breast cancer diagnosis (but had decided against surgical prevention), the women who knew their BRCA+ status were diagnosed with earlier stage breast cancer, needed less chemotherapy, less extensive axillary surgery, and had greater overall 5-year survival (98 percent vs. 74 percent).

"The problem is that genetic screening for BRCA by a saliva or blood test is not recommended by any medical body or health care organization in healthy Ashkenazi Jewish women without a strong family history. Therefore, the way women usually find out they have the BRCA gene is only after they are diagnosed with breast cancer, at which time we've lost the opportunity to offer surgery that could prevent breast cancer or start high-risk breast cancer screening at an age young enough to detect cancers earlier," says Rachel Rabinovitch, MD, FASTRO, CU Cancer Center investigator and professor in the CU School of Medicine Department of Radiation Oncology.

The BRCA genes, BRCA1 and BRCA2, are tumor-suppressor genes, meaning that their function is to identify and correct genetic mistakes that could lead to cancer. When these genes become disabled by mutation, they can no longer act against tumors, leading to a much greater chance of developing breast and ovarian cancers. In the general population, about 1 in 400 women carry BRCA mutations, which most health experts feel is too rare to recommend the wide use of screening (which leads insurance companies to not cover the test). However, for Ashkenazi Jewish women, the risk is ten times higher, leading to calls for increased screening in this population. The test itself is relatively simple, checking for three specific mutations and costing less than $200.

"We found that women who knew they were BRCA positive and chose to keep their breasts were much more likely to be diagnosed with noninvasive breast cancer, earlier stage invasive breast cancer, and need less morbid cancer therapy; but most importantly their survival was better," Rabinovitch says, suggesting that results argue for routine BRCA screening in women of Ashkenazi Jewish descent.

"However even among those of us who did the study, we do not agree on when is the best age for genetic screening," Rabinovitch says. "My colleagues who live in Israel suggest it should be done at age 30 (the age at which significant cancer risk begins), but I think that's too late."

The reason has to do with the ability to screen embryos for BRCA mutations and to choose to implant only the embryos without BRCA mutation.

"Testing at age 30 is useful for the woman - it's before she is likely to develop breast or ovarian cancer and so offers her the opportunity for surgical prevention or increased cancer screening. However, by that age, many women have made the decision to get pregnant, and you've deprived them of the option to undergo procedures which would prevent passing on the BRCA mutation to their children. While not all women will choose this, I think they should be given the opportunity to do so," Rabinovitch says.

Another challenge with early BRCA testing is the social stigma in some communities that can be associated with a positive finding. "When do you share with a partner your BRCA status? Would this impact a partner's interest in marriage or having children? These legitimate and important questions are among the consequences of genetic testing," Rabinovitch explains.

Overall, Rabinovitch advises Ashkenazi Jewish women (and men) to be screened for the BRCA mutation "if they are willing to deal with the consequences of that information." If not, Rabinovitch points out, "it can result in a whole lot of anxiety without much benefit."

Study results add to a growing body of evidence that Rabinovitch hopes will eventually be used to guide new BRCA screening recommendations in the United States and Israel for healthy Ashkenazi Jews and other high-risk populations.

University of Colorado Anschutz Medical Campus

Related Breast Cancer Articles from Brightsurf:

Oncotarget: IGF2 expression in breast cancer tumors and in breast cancer cells
The Oncotarget authors propose that methylation of DVDMR represents a novel epigenetic biomarker that determines the levels of IGF2 protein expression in breast cancer.

Breast cancer: AI predicts which pre-malignant breast lesions will progress to advanced cancer
New research at Case Western Reserve University in Cleveland, Ohio, could help better determine which patients diagnosed with the pre-malignant breast cancer commonly as stage 0 are likely to progress to invasive breast cancer and therefore might benefit from additional therapy over and above surgery alone.

Partial breast irradiation effective treatment option for low-risk breast cancer
Partial breast irradiation produces similar long-term survival rates and risk for recurrence compared with whole breast irradiation for many women with low-risk, early stage breast cancer, according to new clinical data from a national clinical trial involving researchers from The Ohio State University Comprehensive Cancer Center - Arthur G.

Breast screening linked to 60 per cent lower risk of breast cancer death in first 10 years
Women who take part in breast screening have a significantly greater benefit from treatments than those who are not screened, according to a study of more than 50,000 women.

More clues revealed in link between normal breast changes and invasive breast cancer
A research team, led by investigators from Georgetown Lombardi Comprehensive Cancer Center, details how a natural and dramatic process -- changes in mammary glands to accommodate breastfeeding -- uses a molecular process believed to contribute to survival of pre-malignant breast cells.

Breast tissue tumor suppressor PTEN: A potential Achilles heel for breast cancer cells
A highly collaborative team of researchers at the Medical University of South Carolina and Ohio State University report in Nature Communications that they have identified a novel pathway for connective tissue PTEN in breast cancer cell response to radiotherapy.

Computers equal radiologists in assessing breast density and associated breast cancer risk
Automated breast-density evaluation was just as accurate in predicting women's risk of breast cancer, found and not found by mammography, as subjective evaluation done by radiologists, in a study led by researchers at UC San Francisco and Mayo Clinic.

Blood test can effectively rule out breast cancer, regardless of breast density
A new study published in PLOS ONE demonstrates that Videssa® Breast, a multi-protein biomarker blood test for breast cancer, is unaffected by breast density and can reliably rule out breast cancer in women with both dense and non-dense breast tissue.

Study shows influence of surgeons on likelihood of removal of healthy breast after breast cancer dia
Attending surgeons can have a strong influence on whether a patient undergoes contralateral prophylactic mastectomy after a diagnosis of breast cancer, according to a study published by JAMA Surgery.

Young breast cancer patients undergoing breast conserving surgery see improved prognosis
A new analysis indicates that breast cancer prognoses have improved over time in young women treated with breast conserving surgery.

Read More: Breast Cancer News and Breast Cancer Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to