Screening Individuals and Families at High Risk for Hematologic Cancers

OBJECTIVES:

- Ascertain individuals at high risk for hematologic malignancy because of personal or
family medical history.

- Evaluate and define the clinical spectrum and natural history of disease in syndromes
predisposing these individuals and families to hematologic cancer.

- Evaluate the potential precursor states of malignancy in families at risk.

- Quantify the risks of specific tumors in family members of this high-risk population
and define syndromic constellations.

- Identify, map, characterize, clone, and determine function of tumor susceptibility
genes in this high-risk population.

- Validate and test associations of biomarkers with risk in these individuals.

- Identify genetic determinants, environmental factors, and gene-environmental
interactions conferring cancer risk in individuals and families.

- Identify differences and similarities between the familial and sporadic condition in
this high-risk population.

- Educate and counsel study participants about their risk of hematologic malignancy
including prevention recommendations and early detection activities when known.

OUTLINE: One family member completes a family history questionnaire. Participants may
undergo limited physical exams, imaging studies, and skin or bone marrow biopsy.

Blood is collected for localizing genetic loci, identifying genes, and evaluating
genotype/phenotype correlations. Buccal cells are obtained for germline DNA extraction.

Participants receive counseling and education for cancer prevention, risk reduction, and
early detection.

Participants are followed approximately annually for as long as possible.

PROJECTED ACCRUAL: A total of 3,000 patients will be accrued for this study.