Leukemia, Chronic Lymphocytic, Susceptibility To, 1

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Retrieved

2019-09-22

Source

OMIM

Trials

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Genes

POT1, CCND1, TP53, ATM, ARL11, P2RX7, IKZF3, IGHV3-21, IGHG1, RPS15, BCL2, LEF1, DLEU1, IRF4, CFLAR, FARP2, BCL2L11, TSBP1-AS1, FAS, TSBP1, NCAPH2, RREB1, ELL2, QPCT, PRKD2, PCAT1, IPCEF1, DACT3-AS1, C11orf21, SP140, ACOXL-AS1, FAM126B, ULK4, MDS2, LRRC34, DRAIC, CIB3, GGNBP1, BMF, VMP1, CLPTM1L, RFX7, ILRUN, CSRNP1, RHOU, GRAMD1B, RPS6KB1, ACOXL, BANK1, MIR4435-2HG, MYNN, ACTA2, CASC19, SERPINB6, IRF8, SP110, HLA-DQA1, HDLBP, GPR37, PVT1, DTNB, LPP, MGAT5, HLA-DQA2, OAS3, OPRM1, NCK1, CASP10, CASP8, BAK1, HLA-DRB1, SLC35B2, PIK3CD, BTK, MS4A1, LOC102724971, LOC102723407, SELL, KRT20, NOTCH1, CD40LG, IBTK, CD5, IKZF2, CCR8, ETS1, PWWP3A, ETS2, CDKN1B, CD22, CD79A, BTLA, MIR34B, MIR155, RAD51, IFNGR2, PIK3CA, PIK3CG, CCL13, SKP2, TNF, PIM1, TRAF2, CDR3, PIK3CB, KALRN, SLC28A1, CIB1, IGH, RAD51AP1, MME, KMT2A, LTB, IGHV3OR16-7, IGHV3-69-1, ITGAX, ITGA4, IL13, IL7R, IL12A

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400.

Mapping

To identify a susceptibility gene for CLL, Sellick et al. (2005) conducted a genomewide linkage analysis of 115 pedigrees using a high density single-nucleotide polymorphism (SNP) array. They obtained a maximum nonparametric linkage score (NPL) of 3.14 (P = 0.0008) on 11p11. The same genomic position yielded the highest multipoint heterogeneity lod score under both dominant and recessive models. In addition, 4 other chromosomal positions (5q22-q23, 6p22, 10q25, and 14q32) displayed multipoint heterogeneity lod scores greater than 1.15. None of the regions coincided with areas of common chromosomal aberrations frequently observed in CLL.