Jefferson study shows women with inherited breast cancer gene at greater risk for recurrence and new tumors

September 29, 1999

The results pose new questions regarding treatment options for women

For many women under 40 with breast cancer, surgery to remove the cancerous lump and accompanying radiation seem the best way to get rid of the disease and preserve the natural breast. But for women who carry a damaged version of BRCA1 or BRCA2, genes predisposing them to breast cancer, such treatment may not be enough. Researchers at Jefferson Medical College have found that such women have a greater risk of either relapsing or developing new tumors years later than those women who receive a lumpectomy and radiation therapy but don't carry one of these genes.

As a result, says Bruce Turner, M.D., Ph.D., assistant professor of radiation oncology at Thomas Jefferson University in Philadelphia and a member of Jefferson's Kimmel Cancer Center, who led the work, women and physicians may want to rethink their treatment options.

"These findings suggest that a woman who has a mutation in BRCA1 or BRCA2 who is treated with breast-conserving therapy not only has a high risk of local recurrence--40 percent according to our study--but also a high risk of developing breast cancer in the other breast as well," Dr. Turner says.

"Our data suggest that breast-conserving therapy may not be the most optimal treatment for breast cancer patients with BRCA1 or BRCA2 mutations who want to reduce the risk of locally recurrent breast cancer."

Dr. Turner and colleagues at Yale University and Myriad Genetics report their findings in the October issue of the Journal of Clinical Oncology.

Of 170,000 new breast cancer cases a year in U.S. women, about 10 percent--17,000 women--are under 40. Some 10 to 15 percent of those women (2,000) carry an altered BRCA1 or BRCA2 gene, and about 70 to 80 percent develop breast cancer.

Dr. Turner and his group wanted to examine the question of whether those women with a BRCA1 or BRCA2 mutation under 40 who are likely to develop breast cancer are more appropriately treated with mastectomy or breast conserving therapy.

Dr. Turner and his co-workers looked at the frequency of alterations in BRCA1 and BRCA2 in 52 breast cancer patients who, between 1973 and 1994, were treated with breast-conserving lumpectomy and radiation, and who subsequently developed a recurrent cancer in the same breast. They compared these women to 52 other women who had localized breast cancer and were treated similarly but did not experience recurrent disease.

The researchers found that eight, or 15 percent, of the 52 women who had further breast cancer also carried a damaged BRCA1 or BRCA2 gene. In women 40 or under with recurrent breast cancer, six of 15, or 40 percent, had a damaged inherited BRCA1 or BRCA2 gene. In contrast, only one of 15 women in the comparison group who did not have any recurrent cancers carried the bad gene.

The scientists also found that it took longer--an average of about eight years--for women with an altered BRCA1 or BRCA2 gene to relapse than it did women without the damaged gene (slightly less than five years on average). They then carefully examined the tumors using molecular and histologic analysis, thinking these were old cancers that had returned. Instead, they found that some of the tumors were actually completely new breast cancers. The new cancers took an average of 8.5 years to develop.

"If this study is validated with a larger prospective study, it may suggest that BRCA1 or BRCA2 testing may be reasonable to determine optimal breast cancer treatment--either breast-conserving therapy or mastectomy for younger women with family histories of breast or ovarian cancer," Dr. Turner says.

Dr. Turner believes that the study results may present women and their physicians with some difficult decisions regarding appropriate treatments.

"If you told a woman with a damaged BRCA1 or BRCA2 gene that in nine years, 40 to 50 percent of patients like you are going to have a new breast cancer, and you may need a mastectomy, then you'd have to ask her, would you rather have the lumpectomy and seven weeks of radiation or would you rather have the mastectomy now and reduce the risk of recurrent disease?"

One problem with recurring cancer is the threat that the disease may spread. While breast-conserving therapy may be curative for many women, some women who develop recurrent breast cancer also develop metastatic disease.

Dr. Turner says that researchers now need to "look at patients with BRCA1 or BRCA2 who have had a mastectomy and look at the frequency of chest-wall relapse and metastatic disease.

"It makes sense that by removing 90 to 95 percent of the breast cancer cells by mastectomy, the future risk of breast cancer is significantly reduced. But more definitive data is needed before we can justify this recommendation."

Thomas Jefferson University

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