In the Journal of the National Cancer Institute this week, an international team of researchers reports on the risk of non-melanoma cancers for first-degree relatives of people carrying CDKN2A mutations. The team calculated the relative risk of relatives for 65 melanoma patients with CDKN2A mutations, and relatives of 3,537 relatives of melanoma patients without mutations, and found that the relatives of mutations carriers had an increased risk of any kind of cancer other than melanoma, particularly gastrointestinal cancer, and pancreatic cancer. "The lifetime risk of any cancer other than melanoma among CDKN2A mutation carriers was estimated as 59.0 percent by age 85 years by the kin-cohort method, under the standard assumptions of Mendelian genetics on the genotype distribution of [first-degree relatives] conditional on proband genotype," the authors add.
Also in the Journal of the National Cancer Institute, US researchers describe data algorithms to identify second breast cancer events in patients who have already been diagnosed with early-stage invasive breast cancer. Using data from the medical records of 3,125 women diagnosed with stage I or II breast cancer between 1993 and 2006, the team developed an administrative data algorithm that was able to predict with high sensitivity, specificity, and positive predictive value which women were likely to experience second breast cancer events. "The algorithms presented here promote efficient outcomes research, allowing researchers to prioritize sensitivity, specificity, or PPV in identifying second breast cancer events," the team adds.