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BRCA mutation tests in US extended to low-risk women

A study published in the American Journal of Preventive Medicine looks at the use of expanding mutation testing for low-risk female cancer patients.
Gene mutation

A study published in the American Journal of Preventive Medicine looks at the use of expanding mutation testing for low-risk female cancer patients

The tumour suppressor protein producing genes, BRCA1 and BRCA2, are important in protection against the development of cancer by their action of aiding the repair of DNA damage.

Inherited germline mutations in these genes increase the risk of female breast cancer and ovarian cancer. Tests for such mutations means high-risk individuals can be more readily identified, which can lead to life-saving preventive interventions such as screening, prophylactic surgery or chemotherapy.

According to this American study, the accessibility and acceptance of genetic risk testing for abnormalities in the BRCA genes has seen the use of such screening expand from individuals considered at high risk and referred for counselling and genetic testing, to unaffected women who might previously have been

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A study published in the American Journal of Preventive Medicine looks at the use of expanding mutation testing for low-risk female cancer patients


Picture: iStock

The tumour suppressor protein producing genes, BRCA1 and BRCA2, are important in protection against the development of cancer by their action of aiding the repair of DNA damage.

Inherited germline mutations in these genes increase the risk of female breast cancer and ovarian cancer. Tests for such mutations means high-risk individuals can be more readily identified, which can lead to life-saving preventive interventions such as screening, prophylactic surgery or chemotherapy.

According to this American study, the accessibility and acceptance of genetic risk testing for abnormalities in the BRCA genes has seen the use of such screening expand from individuals considered at high risk and referred for counselling and genetic testing, to unaffected women who might previously have been considered ‘low risk’ for developing disease.

Using data from insurance claim records from a private health provider, the study examined information on individuals including women formerly diagnosed with breast or ovarian cancer and unaffected women between 20-65 years old who received BRCA testing between 2004 and 2014. Data from more than 53,000 women were analysed.

The results suggest that the absolute number of tests increased in both groups of women. However, the number of unaffected women undergoing genetic testing for BRCA – those who had no history of cancer – rose from 24.3% in 2004 to 61.5% in 2014.

The proportion of women between the ages of 20-40 undergoing testing was markedly higher in unaffected women, than in women with experience of cancer – at 41.7% versus 17.6%.


Guo, F et al (2017) Use of BRCA mutation test in the US 2004-2014. American Journal of Preventive Medicine. dx.doi.org/10.1016/j.amepre.2017.01.027

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