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This Week in the Journal of the National Cancer Institute: Jun 28, 2012


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.

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.