Familial Cancer Program
BACKGROUND:
The discovery that families can carry a genetic predisposition to cancer has introduced a basic change in the way a diagnosis is made and treatment strategies are developed. The technical advances and publicity have generated patient concerns that need to be addressed with a coordinated support system for the individual and family. The essential issues can be summed up by the following question. What does it mean to be a carrier of a cancer predesposing gene?
Many genetic cancer predisposition syndromes are recognized and more than 60 genetic diseases with mendelian inheritance have been associated with an increased risk for cancer. Recent advances in cancer genetics have raised the possibility of DNA testing for the identification of such at risk families and individual family members. For individuals for whom DNA testing is not available, cancer risk assessment may be provided through evaluation of family history, health history and environmental exposures.
The Familial Cancer Program (FCP) was developed to meet the need for the anticipated demand for hereditary cancer risk assessment and predisposition testing. The FCP will be a complete resource for the medical community and its patients.
Program components include:
-
Pedigree evaluation and risk assessment
-
Selected susceptibility testing and linkage analysis
-
A confidential patient registry
-
Protocols for patient management and counseling
-
Psychosocial counseling and support
Indications for Referral:
-
Individuals with cancer concerned about risk for family members
-
Individuals with several relatives with cancer
-
Individuals with relatives diagnosed with cancer at an early age
-
Individuals with a relative with more than one primary cancer
-
Individuals with a rare or known hereditary cancer or cancer syndrome
-
Individuals concerned about cancer in the family
Susceptibility Testing:
|
Gene |
Chromosome location |
Disease caused by germline mutation |
Tumors caused by somatic mutation |
|
RB |
13q14 |
Retinoblastoma Osteosarcoma |
Retinoblastoma, osteosarcoma, breast, bladder carcinoma, lung |
|
APC |
5q21 |
Adenomatous polyposis coli |
Colon, pancreatic, stomach carcinoma |
|
NF1 |
17q11 |
Neurofibromatosis type 1 |
Neuroblastoma, malignant melanoma, colon carcinoma |
|
NF2 |
22q |
Neurofibromatosis type 2 |
Central schwannomas and maningiomas |
|
p53 |
17p13 |
Li-Fraumeni syndrome |
Soft tissue sarcoma, breast and colon carcinoma, leukemia and others |
|
VHL |
3p21 |
von-Hippel-Landau disease |
Renal cell carcinoma, hamangioblastoma, pheochromocitoma |
|
WT1 |
11p13 |
Wilms tumor |
Nephroblastoma |
|
BRCA1* |
17q21 |
Breast cancer |
Breast carcinoma, ovarian cancer |
|
MLH1
MSH2
PMS2 |
3
2
7 |
Herediatry non-polyposis colon cancer (HNPCC) |
Colon, ovarian, pancreas, breast, endometrial, urologic, gastric |
* Direct testing is only available at this time to persons of Ashkenazi Jewish ancestry.
< Back
|