||3U24CA078156-05S2 Interpret this number
||University Of Pennsylvania
||University of Pennsylvania Cancer Genetics Network
DESCRIPTION: (Applicant's Description) Hereditary cancer predisposition has
been denoted by the National Cancer Institute as a high priority area of
investigation, and the development of a Cancer Genetics Network has been
proposed as a critical component of this effort. When established, the
Cancer Genetics Network will provide a resource for the study of patients
with a family history of cancer, some of which will have documented
mutations in the known cancer susceptibility genes. The University of
Pennsylvania Cancer Center is extremely well-suited to serve as a
contributing member of the Cancer Genetics Network. Barbara Weber, MD, an
internationally recognized expert in cancer genetics will serve as the PI.
Timothy Rebbeck, PhD, a Co-Investigator, is one of a handful of molecular
epidemiologists with expertise in cancer. The University of Pennsylvania
meets all basic Network criteria with an established breast cancer family
database of more than 1000 families with extensive family, demographic and
exposure history, a registry of more than 200 known BRCA1 and BRCA2 mutation
carriers, and a registry of more than 3000 patients from the Pigmented
Lesion Clinic. Established clinical cancer risk evaluation programs provide
ongoing accrual of patients with a family history of breast, ovarian and
colon cancer as well as melanoma. Protocols for pre and post testing
counseling for individuals who opt for genetic susceptibility testing are in
place and have served as models for many developing programs in the US.
Mechanisms for the tracking and follow-up of patients are well-established,
biological specimens are in hand for many of the individuals in the
registries, specimen collection is ongoing, with newly-entered patients, and
an informatics system that will interface easily with other Network sites is
in place. Unique capabilities at The University of Pennsylvania include a
molecular diagnostic laboratory that provides CLIA-approved analysis of
BRCA1 and BRCA1 and is establishing protocols for HNPCC testing, a Cancer
Center network of community hospitals that refer all patients for
consideration of genetic testing, the Center for Bioethics that has been in
the forefront of research in genetic testing for cancer susceptibility, and
state-of the art communication capabilities with management of both OncoLink
(an online resource for all cancer patients that has been nationally
recognized for excellence) and the BIC website (a repository for all known
BRCA1 and BRCA2 alterations). In addition, the investigators who will
direct Network activities at the University of Pennsylvania have an
extensive track record of participation in large collaborative studies
requiring sharing of specimens and data.
Activating mutation in MET oncogene in familial colorectal cancer.
Neklason DW, Done MW, Sargent NR, Schwartz AG, Anton-Culver H, Griffin CA, Ahnen DJ, Schildkraut JM, Tomlinson GE, Strong LC, Miller AR, Stopfer JE, Burt RW
BMC Cancer, 2011 Oct 4;11, p. 424.
2011 Oct 4.