Screening Of Mutation Carriers Research Articles

Abstract P4-01-13: Practice patterns of MRI utilization for breast cancer treatment within the University of California system as part of the Athena initiative

Abstract Background: The appropriate utilization of Breast MRI in breast cancer care remains controversial. As part of a quality improvement initiative for breast cancer screening and treatment, we sent out a survey to physicians who treat breast cancer patients. All respondents are participants in the ATHENA initiative, a program which unites physicians, researchers, and patients at the five University of California medical centers. Objective: To use the ATHENA infrastructure to perform a qualitative analysis of variations in breast cancer care. Methods: Surveys were sent to 50 physicians in the ATHENA network whose practices are focused on breast cancer. Respondents were presented with clinical scenarios, and asked whether they would recommend MRI always/usually or sometimes/never. Differences were compared by Chi square. Results: 39 physicians completed the survey (78% response rate). Of these physicians 29% were surgeons, 26% radiation oncologists and 45% medical oncologists. Athena physicians were more likely to order MRI for high risk screening of mutation carriers than not (85% yes vs. 15% no, p < 0.003) but not based on breast density alone or previous history of breast cancer. They were also more likely to order it for monitoring neo-adjuvant chemotherapy (70% yes vs. 30% no, p < 0.03). Although the majority answered that they would order a Breast MRI for new breast cancer the difference between responses was not significantly different (56% yes vs. 44%, p = 0.07). Conclusion: Athena physicians follow established published guidelines which demonstrate a benefit for Breast MRI screening for BRCA mutation carriers but not based on density or previous history of breast cancer. The Athena network allows a forum for new practice guidelines to be implemented as data becomes available to improve patient outcomes and utilize the best evidence for patient care, where both the patterns of MRI use as well as the outcomes of practice patterns will be evaluated prospectively. Citation Information: Cancer Res 2012;72(24 Suppl):Abstract nr P4-01-13.

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection.

With increasing knowledge about the causal role of genetic defects in clinical diseases the necessity is apparent to have procedures for rapid diagnosis of point mutations. We developed a PCR-based technique, whereby both normal and mutant alleles can be amplified in the same reaction tube, using different length allele-specific primers. Furthermore the allele-specific primers introduce additional deliberate differences into the allelic PCR-products that drastically reduce crossreactions in subsequent cycles. This mutagenesis separates the amplification reactions of the alleles performed in the same tube. Subsequent identification of the PCR-products is done by gel electrophoresis and shows at least one of the two allelic products. Therefore, in addition to simple handling, MS-PCR provides a within-assay quality control for the exclusion of false negative results. The feasibility of this technique has been tested using six different mutations. The high sensitivity of MS-PCR also allows screening for mutation carriers in pooled DNA samples.