Multigene Testing Replacing BRCA Tests for Breast Cancer Risk

Excerpt:

“The use of genetic tests aimed at detecting the presence of mutations in the BRCA1 and BRCA2 genes in women with breast cancer is rapidly declining in favor of tests that can detect multiple cancer-associated mutations, according to researchers at the Stanford University School of Medicine and five other U.S. medical centers.

“Some researchers had wondered whether multigene testing, which may identify genetic mutations of uncertain clinical significance, would lead more women to consider prophylactic mastectomies — a surgery in which both breasts are removed to prevent future cancers — out of an abundance of caution. However, the current study did not show an increase in mastectomies associated with testing more genes.”

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A Third of Breast Cancer Patients Concerned About Genetic Risk

“A new study from the University of Michigan Comprehensive Cancer Center finds that many women diagnosed with breast cancer are concerned about the genetic risk of developing other cancers themselves or of a loved one developing cancer.

“Overall, 35 percent of women with breast cancer expressed a strong desire for genetic testing, but 43 percent of those women did not have a relevant discussion with a health care professional. The study also found that racial minority patients with a strong desire for testing were less likely than white patients to discuss it with a professional, even though studies show that minority patients are not at lower risk for these mutations.

” ‘Our findings suggest a marked unmet need for discussion about genetic risk,’ says study author Reshma Jagsi, M.D., D.Phil., associate professor of radiation oncology at the University of Michigan Medical School.

“About 5 percent to 10 percent of breast cancer patients have an inherited genetic mutation that drives their cancer. Many of the women who reported interest in genetic testing were at low risk of having a mutation and doctors would not typically discuss genetic risk with them.”


Fifteen New Breast Cancer Genetic Risk 'Hot-Spots' Revealed

“Sientists have discovered another 15 genetic ‘hot-spots’ that can increase a woman’s risk of developing breast cancer, according to research published in Nature Genetics.

“In a study funded by Cancer Research UK, scientists compared tiny variations in the genetic make-up of more than 120,000 women of European ancestry, with and without breast cancer, and identified 15 new variations — called single nucleotide polymorphisms (SNPs) — that are linked to a higher risk of the disease.

“This new discovery means that a total of more than 90 SNPs associated with breast cancer have now been revealed through research.”