Family history alone can imply cancer mutation risk

September 26, 2005

One in five women diagnosed with breast or ovarian cancer who seek mammography have a family history of cancer that suggests they may harbor known cancer-causing gene mutations. Writing in the November 1, 2005 issue of CANCER, a peer-reviewed journal of the American Cancer Society, researchers say the prevalence of such a family history is considerably higher than the rate among women with no personal history of cancer, and has significant implications for risk assessment, testing, and clinical management.

Physicians are called upon to assess and stratify a patient's future risk of cancer. But with few cancer-specific protocols, effective risk measures, or easy to use predictive models, this remains a daunting, if not an untenable, responsibility.

While less than 10 percent of breast or ovarian cancers have been linked to heritable gene mutations in BRCA1 and BRCA2, women with these mutations have up to an 80 percent lifetime risk of breast cancer and up to a 40 percent lifetime risk of ovarian cancer. Identification for prevention, early diagnosis and treatment are paramount to save lives.

A thorough family history may be the most effective measure for cancer risk. Existing modeling studies report that less than 6 percent of women without a history of breast or ovarian cancer have family histories that may identify them as BRCA1/BRCA2 mutation carriers. A small study of only 50 women with a history of breast or ovarian cancer reported that 22 percent had suggestive family histories.

For the new study, researchers led by Francisco J. Dominguez, M.D. and Kevin S. Hughes, M.D. of Massachusetts General Hospital reviewed family histories of 1764 women diagnosed with breast or ovarian cancer. The data was then analyzed according to a risk assessment protocol, the Myriad Mutation Prevalence Tables, to identify women with a 10 percent or greater risk of having mutations.

Using this tool, they found that 20 percent of women with these cancers had a 10 percent or greater risk of harboring the cancer causing mutations. Examination by cancer location showed that 100 percent of women with bilateral breast cancer, 35 percent of women with ovarian cancer, and 18.9 percent of women with unilateral breast cancer had a 10 percent or greater risk of oncogenic mutations.

More women of Ashkenazi ancestry reported high-risk family histories (47 percent) compared to women of non-Ashkenazi ancestry (18 percent).

The Myriad Tables effectively assess risk for BRCA1 and BRCA2 mutations in women using a thorough family history. "We have developed," conclude the authors, "a simple, fast and effective method of detecting a large number of patients at high risk for hereditary breast/ovarian cancer syndrome in a mammography population."
-end-
Article: "Prevalence of Hereditary Breast/Ovarian Carcinoma Risk in Patients with a Personal History of Breast or Ovarian Carcinoma in a Mammography Population," Francisco J. Dominguez, Julie L. Jones, Katherina Zabicki, Barbara L. Smith, Michele A. Gadd, Michele Specht, Daniel B. Kopans, Richard H. Moore, James S. Michaelson, and Kevin S. Hughes, CANCER; Published Online: September 26, 2005 (DOI: 10.1002/cncr.21393); Print Issue Date: November 1, 2005

Wiley

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
Brightsurf.com 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 Amazon.com.