CANCER PHENOTYPE

CHROMOSO-MES INVOLVED

MUTATIONS CHARACTERISTICS

GENES

CITATIONS

TRANSLOCATION INDUCED GIs

Non-Hodgkin's lymphoma (Mucosa-Associated Lymphoid Tissue lymphoma )

11, 18

trisomy 3, trisomy 18, p16 deletion, t(1;14)(p22;q32), and t(11;18)(q21;q21), fusion of the API2 and the MALT1? gene at the 11q21 and 18q21 breakpoints

MALT1

87

Nodular lymphocyte predominance Hodgkin lymphoma (NLPHL)

3, 7 and 22

The BCL6 rearrangement 3q27;
The BCL6-associated translocations, t(3;22)(q27;q11), t(3;7)(q27;p12), and t(3;9)(q27;p13)

BCL6

88

Follicular Lymphoma (FL)

14, 18

deletions in chromosomes 1, 6, 9, and 11;
t(14;18)(q32;q21),

BCL6, BCL2, IGH

89

Angiomatoid malignant fibrous histiocytoma (AMFH)

12,16, 22

t(12;16) (q13;p11) and t(12;22)(q13;q12).

1. FUS-ATF1 fusion gene in the t(12;16)(q13; p11).
2. EWSR1-ATF1 fusion gene in the t(12;22)(q13;q12)

FUS (TLS)- ATF-1

90

GENE MUTATIONS INDUCED GIs

Human Colorectal Cancer

9p, 12, 17

K-ras mutations , p16 methylation, p53 mutations and p14 methylation

MRE11, ARF, APC and p53

65

Papillary carcinomas of the thyroid

7

The BRAF mutations

BRAF

91

WHOLE or SUB CHROMOSOMAL REARRANGEMENTS

CANCER PHENOTYPE

CHROMOSO-MES INVOLVED

MUTATIONS CHARACTERISTICS

GENES

CITATIONS

Ductal Carcinoma In Situ (DCIS)

Losses of 16q
a higher frequency of gains of 1q and losses of 11q DCIS

INT2

92

Atypical and Usual Ductal Hyperplasia of the Breast

8, 16, 17

16q loss? and 17p loss; loss of 8p, copy number alterations

93

Breast Cancer

1; 17

chromosome 1 rearrangements; mutations in the p53

p53

94

Squamous cell carcinoma

3, 8, 9, 9, 17, and trisomy 7

loss of heterozygocity (LOH) are 3p, 8p, 9p, 9q, 17p; trisomy 7; early monosomy 9;

p53

95

Ovarian cancers

3q, 8q, 20q and 16q

amplification and/or overexpression of ERBB2, MYC, PIK3CA, and AKT2 and mutation or down-regulation of TP53, K-RAS, LOT1, DOC2, NOEY2, OVCA1 and SPARC.

BRCA1, BRCA2
PIK3CA ,

96

BREAKAGE SYNDROMES

Ataxia Telangiectasia

11q

Mutations of ATM? in 11q22-23.

ATM

43

Nijmegen Breakage Syndrome (NBS1)

8

8q21.3
657del5 in exon 6 of the NBS1 gene

NBS?????

44

Bloom Syndrome (BS)

15q

sister chromatid exchanges (SCEs) and elevated somatic mutations

BLM

45

Rubinstein-Taybi Syndrome

2, 7, 16

t(2;16)(p13.3;p13.3); t(7;16)(q34;p13.3),?? microdeletions of chromosome 16pl3.3

CBP

97

EPIGENETIC MEDIATED INSTABILITY

MSI colon cancer

3

epigenetic inactivation of both hMLH1 alleles

hMLH1

98

Gastrointestinal cancers

9 ( p16INK4a)
10 (MGMT)
5 (APC)
3 (MLH1)

hypermethylation of p16INK4a, MGMT, APC, and hMLH1

p16INK4a, p14ARF, MGMT, APC, and hMLH1

65

Lung cancer

9

hypermethylation of the p16INK4a?(p16)

p16INK4a

66