We have established a cancer genetics program within this Branch of the DCS. We serve and utilize as a resource the patient population of the NCI as well as the National Naval Medical Center, Suburban Hospital (through collaboration with Suburban Endoscopy Associates) and the NSABP. The program has two aspects. (1) There is a patient-oriented pathway which begins with patient assessment and eligibility determination and leads through an education and counseling component to the opportunity to be tested for germline gene mutation that would predispose to colorectal (or within the past month, breast) cancer. Following the determination of germline status, the patient is apprised of the result in person and then introduced to and evaluated for cancer surveillance and prevention options. (2) Within the laboratory, four research projects have been developed. The first focuses on molecular diagnostics and looks to define an algorithm and specific defensible marker set for identifying a malignancy as defective in nucleotide mismatch recognition and repair (and microsatellite unstable). The second project correlates specific gene mutation in MSH2, MLH1, PMS1, PMS2, MSH6, MSH3, BRCA1, and BRCA2 and the presentation, histopathology, response to therapy, family penetrance, related molecular markers, and ultimate outcome of patients with colorectal, endometrial, ovarian, or breast cancer. The third project is attempting to develop a biomarker that correlates with risk for the development of colorectal cancer. The fourth project takes as its starting point the difference between RER+ malignancies and the RER- non-malignant tissue from which they arose, and is focused on the development of anti-cancer therapy that highlights this difference.
