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Bernard Friedenson, Re: BRCA1 and BRCA2 Founder Mutations and the Risk of Colorectal Cancer, JNCI: Journal of the National Cancer Institute, Volume 96, Issue 15, 4 August 2004, Pages 1184–1185, https://doi.org/10.1093/jnci/djh236
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Recently, excellent studies ( 1 , 2 ) concluded that Ashkenazi founder mutations in BRCA1 and/or BRCA2 (BRCA1/2) are not associated with a clinically meaningful increased risk of colorectal cancer. However, the possibility remains that once transformation begins in mutation carriers, colorectal cancer will progress more rapidly so that it can be detected at a younger age. Point estimates ( 1 ) suggest that BRCA1/2 founder mutation carriers might be at increased risk for earlier colorectal cancer (for those <65 years old, odds ratio [OR] = 3.14, 95% confidence interval [CI] = 0.64 to 15.43; for those ≥65 years old, OR = 0.96, 95% CI =0.48 to 1.91; P for interaction = .22). However, Kirchoff et al. ( 2 ) cite a lack of evidence for earlier onset colorectal cancer. In the absence of definitive investigation, largely hypothetical functional interrelationships and limited evidence suggest that BRCA mutation carriers should still consider risk factor reduction methods for colorectal cancer (available at http://www.cancer.gov/cancerinfo/pdq/prevention/colorectal/healthprofessional [last accessed: June 25, 2004]), and mutation carriers should still be vigilant for the disease, perhaps with earlier and augmented screening.
