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Gene panel testing for hereditary breast cancer

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It is estimated that less than 5% of breast cancer occurs as a result of single gene predispositions; some 2% is explained by mutations in the well known BRCA1 or BRCA2 genes.1 The Australian Institute of Health and Welfare estimated that 15 740 people would be diagnosed with breast cancer in 2015,2 suggesting about 780 of these cancers would be due to genetic predisposition. While this number seems small, the people affected have many more family members (most of whom are unaffected) who can have their potentially high risk of breast cancer managed once it is identified.

Recognition of a familial predisposition to breast cancer led to a race for the “responsible” genes in the late 20th century. The BRCA1 gene was the first gene found to have very rare mutations associated with high penetrance of breast and ovarian cancers.3,4 These rare mutations were often identified in young women or in members of families with multiple cases of breast or ovarian cancer. In 1994, the BRCA2 gene was identified,5,6 and mutations in this gene were found to be associated with increased risk of several cancer types; breast and ovarian cancers were seen in families who also had…