Inherited breast and ovarian cancer: what are the risks? What are the choices?

Article Abstract:

Five to 10% of the women who develop breast or ovarian cancer have inherited a gene that increases their susceptibility to these diseases. The increased incidence of breast cancer in some families has been observed for many years. The incidence of breast cancer is increasing, so some familial clusters of the disease may not be genetic. Breast cancer is caused by genetic changes in the cells that line the ducts of the breasts. Inherited mutations in several different genes can increase susceptibility to breast cancer. Alterations in the BRCA1 gene can increase the risk of both breast and ovarian cancer. Woman who inherit an increased risk of breast or ovarian cancer may have several different choices. One is to undergo examinations every six months for breast cancer and a yearly mammogram. Ovarian cancer is more difficult to screen for, but ultrasound is becoming a more widely used screening device. Another alternative is a preventative mastectomy or oophorectomy.

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A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening

Article Abstract:

Many of the mutations identified in the BRCA1 gene may result in a truncated protein product and three BRCA1 gene mutations may occur more often than others. Women who have a mutation in the BRCA1 gene are predisposed to breast and ovarian cancer. Researchers in nine laboratories in North America and the United Kingdom took blood or tumor samples from 1,086 women with breast or ovarian cancer to test the patients' DNA for BRCA1 gene mutations. DNA samples from 63 women contained a total of 38 unique mutations. Of these, most were frameshift mutations that are caused by the insertion or deletion of at least one nucleotide. This type of mutation can affect protein translation most often through premature truncation of the protein product. The mutations were distributed throughout many regions of the BRCA1 gene. Three common BRCA1 mutations accounted for 32% of the mutations identified in the DNA from 63 families.

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Frequency of breast cancer attributable to BRCA1 in a population-based series of American women

Article Abstract:

It may not be cost-effective to screen all American women for mutations in the BRCA1 gene. These mutations have been linked to an increased risk of breast and ovarian cancer. Researchers tested 211 women with breast cancer and 188 women without breast cancer for the presence of BRCA1 mutations. Overall, only 3% of the women with breast cancer had a mutation. In women with a family history of breast or ovarian cancer, the percentage of women who had a mutation ranged from 13% to 33%. Based on these results, only women with a family history of breast or ovarian cancer should be screened for these mutations.

Testing, Gene mutations, Gene mutation

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