Research at Fox Chase »Research Facilities »Clinical Research Facilities

Andrew K Godwin, PhD Director Betsy A Bove, PhD Laboratory Manager Kimberly Cattie, BS, MT Scientific Tech II Frank Zambito, BA Research Specialist

West Building, Room W232 215-728-4785 Betsy.Bove@fccc.edu

Function

The Clinical Molecular Genetics Laboratory (CMGL) was initially established for the purpose of performing the mutational analysis of genes (e.g., BRCA1 and BRCA2), which are involved in hereditary forms of breast and ovarian cancer. The laboratory now performs clinical mutational analysis on lung, colon, and gastrointestinal tumors, to name a few, on a wide variety of genes and non-coding and regulatory regions of the human genome. The population of individuals undergoing diagnostic testing have been gathered through various high-risk screening clinics including the Family Risk Assessment Program, the Prostate Risk Assessment Program, and the Gastrointestinal Tumor Risk Assessment Program. Blood samples are collected through these high-risk clinics and processed in the Biospecimen Repository Core Facility (BRCF). DNA samples from individuals seeking genetic testing are then screened for mutations in designated genes in the CMGL using several highly-sensitive molecular strategies. An enzyme mutation detection assay has been developed and optimized for the detection of DNA mismatches, insertions, and deletions within the coding regions of genes of interest. Other molecular techniques, including the heteroduplex mobility assay (HMA), and direct sequencing, are used to screen for common mutations and/or to confirm known mutations within other family members. A technician performs the molecular testing on DNA samples, and mutational analyses are reviewed by Dr. Betsy Bove (Laboratory Manager) and Dr. A. Godwin (Director, CMGL)

Description

The Clinical Molecular Genetics Laboratory was established in 1996 by Dr. Godwin and is performing microsatellite instability (MSI) and mutation analysis on several cancer susceptibility genes, including BRCA1, BRCA2, CHK2, TP53, ATM, c-KIT, EGFR, UGT1A1, BRAF , PDGFR for both clinical and research purposes. The laboratory is CLIA/CAP approved and is fully equipped for clinical testing using the above described molecular techniques. Laboratory technicians are trained, qualified, and experienced to perform mutational analysis under the direction of Drs. B. Bove and A. Godwin. To inquire about mutational detection and analysis through a research protocol or by insurance supported clinical analysis, please call Dr. Betsy Bove at 215-728-4785.