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Genetic Counseling & Testing

Patients electing genetic testing for cancer susceptibilities, in most cases the sample is sent for testing to a licensed commercial laboratory. Genetic testing for the APC I1307K mutation, a mutation in the APC gene found in individuals of Ashkenazi Jewish decent which predisposes to colon cancer, is sometimes performed in CLIA approved lab at The Johns Hopkins University.

Pre-test Counseling and Risk Assessment

Questionnaires detailing the patient's personal and family medical history are mailed to patients, to be returned prior to their scheduled appointment, for the most accurate consultation.

Available Testing For:

  • Cancer/Syndrome Gene
  • Breast & Ovarian Cancer
  • Cowden syndrome
  • Familial Adenomatous Polyposis
  • Hereditary Nonpolyposis Colorectal Cancer
  • Familial Colon Cancer in the Ashkenazi Jewish Population
  • Li-Fraumeni Syndrome
  • Familial Melanoma
  • Multiple Endocrine Neoplasia type 1
  • Multiple Endocrine Neoplasia (2a, 2b and FMTC)
  • Peutz-Jeghers syndrome
  • Juvenile Polyposis
  • Retinoblastoma
  • von-Hippel-Lindau BRCA1 & BRCA2
  • PTEN
  • APC & MYH
  • MLH1,MSH2 & MSH6
  • APC I1307K
  • p53
  • p16
  • MEN1
  • RET
  • STK-11
  • SMAD4 & BMPR1A
  • RB1
  • VHL

Post-test Counseling

The results of genetic testing are shared with the patient over the telephone or during a follow-up disclosure session, depending upon the specific situation. Information about the implications of the results and recommended screening and follow-up is discussed.

Cancer Genetics and Prevention Service


Family Registries or National Registries

A number of familial registries are available at the Sidney Kimmel Comprehensive Cancer Center:

  • Hereditary Colorectal Cancer Registry-
    In existence since 1973, this registry includes families with multiple cases of colon cancer or a known inherited form of colon cancer. The registry accumulates medical and family records, extensive family pedigrees, and is continuously accruing new families. Registry participants are often eligible for research projects at Hopkins.
  • Prostate Cancer Family Registry-
    For families who meet the criteria of three or more first-degree relatives with prostate cancer or two affected first degree relatives with prostate cancer under the age of 55. Cells for DNA may be archived on selected individuals.
  • National Familial Pancreas Tumor Registry-
  • Established to document the presence of familial forms of pancreatic cancer and to evaluate affected families to gain a better understanding of the genetic basis of cancer of the pancreas.
  • The Mid-Atlantic Cancer Genetics Network-
    A nationally based registry through the National Cancer Institute that includes individuals and families with all types of cancer. The Mid-Atlantic Cancer Genetics Network cooperates with seven other sites across the United States.

Cancer Screening

Recommendations for early detection and prevention of cancer are provided. Recommendations are based on a combination of evidence and empiric data, expert opinion, and consensus statements, and take into account the patient's personal and family history. Specific screening protocols have been devised for certain cancer susceptibility syndromes.

Psychological and Supportive Services

A clinical psychologist is available as part of our multidisciplinary team through a referral. At Johns Hopkins Kimmel Cancer Center we offer support group information for certain situations. Social worker support is also available through the Kimmel Cancer Center through the Harry J. Duffey Patient and Family Services.

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