Abstract
In the previous issue of Breast Cancer Research, Broeks and collaborators present the results of a study suggesting that germline mutations in BRCA1, BRCA2, ATM or CHEK2 may double the risk of radiation-induced contralateral breast cancer following radiotherapy for a first breast cancer. The assocation appeared to be strongest among women who were below the age of 40 at the time of their first breast cancer and among women who developed their second cancer 5 years or more after the first. While there were a number of methodological issues that might limit the conclusions drawn from this paper, this is one of several recent studies suggesting that carriers of pathogenic alleles in DNA repair and damage recognition genes may have an increased risk of breast cancer following exposure to ionising radiation, even at low doses. This finding has important implications for the protection of breast cancer patients and their close relatives. If confirmed, mutation carriers may wish to consider alternatives to X-ray for diagnostic purposes. The need for tailored cancer treatment strategies in carriers should also be evaluated carefully.
Highlights
Associations have been reported between inherited Breast cancer (BC) and pathogenic alleles in ten different genes involved in pathways critical for genomic integrity [4]
In the previous issue of Breast Cancer Research, Broeks and collaborators [7] present results suggesting that pathogenic alleles in four specific DNA repair and damage recognition genes increase the risk of radiation-induced contralateral BC following radiotherapy for a first BC
21% of cases carried a pathogenic allele in BRCA1, BRCA2, CHEK2 or ATM
Summary
Associations have been reported between inherited BC and pathogenic alleles in ten different genes involved in pathways critical for genomic integrity [4]. BRCA1 and BRCA2 mutations confer very high risks of breast and ovarian cancer. Because many of these genes are implicated in the response to ionising radiation, women who carry pathogenic alleles in these genes might be more sensitive to radiation-induced BC than non-carriers, as suggested by recent studies [5,6]
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