17 Facts About BRCA mutation

BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.

Statistics for BRCA mutation-related ovarian cancer typically encompass not only cancer of the ovaries themselves, but peritoneal cancer and the very rare, but somewhat easier to detect, cancer of the Fallopian tubes.

Women with a BRCA mutation have more than 100 times the normal rate of Fallopian tube cancer.

BRCA mutation-related breast cancer appears at an earlier age than sporadic breast cancer.

BRCA mutation-related ovarian and Fallopian tube cancer is more treatable than average because it is unusually susceptible to platinum-based chemotherapy like cisplatin.

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Men with a BRCA mutation have a dramatically elevated relative risk of developing breast cancer, but because the overall incidence of breast cancer in men is so low, the absolute risk is equal to or lower than the risk for women without a BRCA mutation.

The risk is smaller and disputed for BRCA1 carriers; up to one-third of BRCA2 mutation carriers are expected to develop prostate cancer before age 65.

Prostate cancer in BRCA mutation carriers tends to appear a decade earlier than normal, and it tends to be more aggressive than normal.

BRCA2 mutation carriers have approximately double or triple the risk that they would normally have, including a higher than average risk of melanoma of the eye.

BRCA mutation carriers have a higher than average risk of this common cancer, but the risk is not as high as in some other hereditary cancers.

Positive test result for a known deleterious BRCA mutation is proof of a predisposition, although it does not guarantee that the person will develop any type of cancer.

Mammograms are typically used only at advanced age as there is reason to believe that BRCA mutation carriers are more susceptible to breast cancer induction by X-ray damage than general population.

BRCA mutation2 related ovarian cancer tends to present in perimenopausal or menopausal women, so salpingo-oophorectomy is recommended between ages 45 and 50.

Many women with a BRCA mutation take hormone replacement therapy to reduce these effects: estrogen-progesterone combinations for women who have a uterus, and unopposed estrogen for women whose uterus was removed.

Studies about this effect among BRCA mutation carriers have produced conflicting results, but generally speaking, having children is believed to provide little or no protection against breast cancer for women with BRCA1 mutations, and to paradoxically increase the risk of breast cancer for women with BRCA2 mutations.

The only dietary intervention that is generally accepted as preventing breast cancer in BRCA mutation carriers is minimizing consumption of alcoholic beverages.

Only a single BRCA mutation has been patented in Myriad's lone European-wide patent, although some patents remain under review of an opposition proceeding.