Trial Information

Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Blood and Lymph Node Malignancy

Background:

- Persons may be prone to develop hematologic or lymphoproliferative cancer for a variety
of reasons including: inherited predisposition of benign, premalignant, or malignant
conditions; environmental exposures shared by family members; previous tumors or
preneoplastic conditions; immune deficiency; or, stochastic processes

- Investigations of individuals and families at high risk of cancer often lead to
etiologic clues that may be important in the sporadic counterparts of these cancers in
the general population

- Identification of etiologically important genetic factors could inform chemoprevention
trials, screening programs, and treatment of hematologic and lymphoproliferative
cancers

Objectives:

- To evaluate and define the clinical spectrum and natural history of disease in
syndromes predisposing to hematologic cancer

- To evaluate potential precursor states of malignancy in families at risk

- To quantify the risks of specific tumors in family members and define syndromic
constellations

- To identify, map, characterize, clone, and determine function of tumor susceptibility
genes

- To validate and test associations of biomarkers with risk

- To identify genetic determinants, environmental factors, and gene-environmental
interactions conferring cancer risk in individuals and families

- To identify differences and similarities between the familial and sporadic condition

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

- To develop syndrome specific educational materials for medical professionals and
high-risk family members

Eligibility:

- Persons of any age will be considered if

- there is a personal or family medical history of hematologic/lymphoproliferative
malignancy of an unusual type, pattern, or number; or,

- there are known or suspected factor(s) predisposing to hematologic malignancy,
either genetic or congenital factors, environmental exposure, or unusual
demographic features

- For familial neoplasms, two or more living affected cases among family members are
generally required

Design:

- This is a prospective study. Families are studied long-term using a cohort approach.

- The study design and clinical evaluation vary by the specific type of familial neoplasm
being studied

- The overall approach to eligible families includes defining affection status,
characterization of disease, localization of genetic loci, identification of genes,
evaluation of phenotype/genotype correlations, estimation of risk of the disease
associated with carrier status, and identification of other risk factors that modify
penetrance (genetic, environmental, and host factors)