Scientists Discover New Breast Cancer Susceptibily Gene

October 31, 1997

NEW YORK, N.Y., Oct. 31, 1997--Mutations in the gene P-TEN can increase a woman's risk of breast cancer, according to scientists at Columbia University College of Physicians & Surgeons. The findings identify the third breast cancer susceptibility gene; the other two such genes are BRCA1 and BRCA2. The discovery could lead to better tests for early detection and more effective treatments.

The study, published in the Nov. 1 issue of the American Journal of Human Genetics, was a collaboration between Columbia University scientist Dr. Monica Peacocke and Myriad Genetics in Salt Lake City, Utah. The P-TEN gene, also called MMAC1, is located on chromosome 10. The role of this chromosome in the development of various sporadic cancers has been investigated for nearly a decade.

Dr. Peacocke and colleagues made their discovery while searching for the genetic basis of Cowden's syndrome, a little-known dermatological disorder. The autosomal dominant syndrome, which affects mainly women, causes skin rashes, tiny wart-like bumps, thyroid disease, and --beginning in the teen-age years-- severe benign fibrocystic disease. By their 40s, 50 percent to 75 percent of women with Cowden's syndrome develop breast cancer.

"Cowden's syndrome is an under-recognized and under-diagnosed disorder. The identification of this gene will allow us to develop screening tests so that these women can follow early detection and prevention strategies and get prompt treatment of breast cancer," says Dr. Peacocke, associate professor of medicine and dermatology at the Columbia-Presbyterian Medical Center. Cowden's syndrome may also increase a woman's risk of endometrial cancer. Therefore, women with the genetic mutation who also have breast cancer might not be candidates for treatment with tamoxifen, which itself can increase the risk of endometrial cancer.

Researchers are not sure of the exact incidence of Cowden's syndrome. Most cases of breast cancer are the result of sporadic, as opposed to inherited, mutations. "Just as not every woman with breast cancer has mutations in the BRCA1 or BRCA2 genes, not every case of breast cancer will involve P-TEN," says Dr. Peacocke. "But this is another piece of the breast cancer puzzle."

"Based on our finding of P-TEN, we are currently testing women with a family history of breast cancer and thyroid disease for mutations of P-TEN, which would give early warning of cancer risk," says Dr. Peacocke. "This way we can provide more effective genetic counseling for families where there is a significant family history of breast cancer."

The study's other authors were Hui C. Tsou, David H.-F. Teng, Xiao Li Ping, Valeria Brancolini, Thaylon Davis, Rong Hu, Xiao Xun Xie, Alexandra C. Gruener, Carolina A. Schrager, Angela M. Christiano, Charis Eng, Peter Steck, Jurg Ott, and Sean V. Tavtigian.

The study was funded by the National Cancer Institute and the National Institute on Aging.

Columbia University Medical Center

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