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Familial chronic lymphocytic leukemia.

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BlankFamilial chronic lymphocytic leukemia.

LR Goldin, SL Slager, and NE Caporaso

Curr Opin Hematol, April 12, 2010; .

aGenetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics,

National Cancer Institute, NIH, Bethesda, land, USA bMayo Clinic, Rochester,

Minnesota, USA.

PURPOSE OF REVIEW: Families with multiple individuals affected with chronic

lymphocytic leukemia (CLL) and other related B-cell tumors have been described

in the literature and strong familial aggregation has been seen in population

studies. However, predisposing germline mutations have not been identified. We

will discuss the spectrum of conditions associated with CLL in families and the

advances in identifying the underlying susceptibility genes. RECENT FINDINGS:

Familial CLL does not appear to differ substantially from sporadic CLL in terms

of prognostic markers and clinical outcome, although it may be associated with

more indolent disease. The precursor condition, monoclonal B-cell lymphocytosis,

also aggregates in CLL families. Linkage studies have been conducted in

high-risk CLL families to screen the whole genome for susceptibility loci but no

gene mutations have yet been identified by this method. Association studies of

candidate genes have implicated several genes as being important in CLL but more

studies are needed. Results from whole-genome association studies are promising.

SUMMARY: The ability to conduct large-scale genomic studies in unrelated CLL

patients and in high-risk CLL families will play an important role in detecting

susceptibility genes for CLL over the next few years and thereby help to

delineate causal pathways.

PMID: 20389242

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