Fall 2004

Medical Genomics

A family has an unusually high incidence of various cancers and many members of the family also have subtle musculoskeletal or craniofacial abnormalities. Is there a connection?

Clinicians and researchers at UCSF have established the Medical Genomics Clinic to serve families with a family history of multiple neoplasias and congenital anomalies such as musculoskeletal anomalies and minor cardiac defects. The service recognition of a family with a cancer syndrome is important for several reasons, including the initiation of cancer surveillance, identification of relatives at increased cancer risk and recurrence-risk counseling for the family.

Clinic services include a comprehensive evaluation, including a dysmorphology examination of the proband and family, genetic counseling and follow-up services. Family members have the opportunity to enroll in research studies on the common genetic basis of cancers and birth defects.

Dr. Katherine A. Rauen, a medical geneticist and pediatrician, says investigators will apply array-based genome hybridization (array CGH) to scan for possible chromosomal aberrations at a significantly higher resolution than is possible with conventional cytogenetic techniques. The hope is that current these array-based comparisons can be used to locate common genetic pathways between the cancer and the abnormality, offering insight into the genetic basis of cancer as well as normal development, she says.

To contact Rauen or Nicola Stewart, a genetic counselor, please call the UCSF Cancer Risk Program at (415) 885-7779.

Medical Genetics (415) 476-2757

UCSF Childrens Hospital is a leader in comprehensive medical genetics testing, diagnostic evaluation, genetic counseling and treatment for adults and children with known or suspected genetic disorders or congenital anomalies. Our expertise includes inborn errors of metabolism, malformation syndromes, mental retardation syndromes, hemoglobinopathies, inherited neurologic disorders and familial cancer syndromes. Prenatal genetic counseling and diagnosis are provided in conjunction with the reproductive genetics services. We were the first to develop prenatal tests for sickle cell anemia.

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