Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis

Summersgill, Brenda; Thornton, Patrick; Atkinson, Shayne; Matutes, Estella; Shipley, Janet; Catovsky, Daniel; Houlston, Richard S.; Yuille, Martin

doi:10.1038/sj.leu.2402321

Cited by 23 publications

(14 citation statements)

References 9 publications

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“…In a CGH analysis of chronic lymphocytic leukaemia, gains and losses at Xp11.2, Xp21 and Xq21 tended to be more distinct in the 24 familial than in sporadic cases. 9 Among the X-chromosomal regions where males showed more gains at P < 0.001, 10 There is a possibility that this finding is related to the gender difference in the incidence of colorectal cancer. Indeed, it was at Xp21, Xp11.3, Xp11.4 and Xq26 that males showed a significantly higher level of gains.…”

Section: Discussionmentioning

confidence: 98%

Analysis of the Relationship between Sex and Chromosomal Aberrations in Colorectal Cancer by Comparative Genomic Hybridization

et al. 2006

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Colorectal cancer is thought to be more common in men than in women. The chromosomal locations of DNA gains and losses in surgical specimens of colorectal tumours were detected by comparative genomic hybridization and were compared by gender. Five chromosomal regions, 7p, 8p, 8q, Xp and Xq, contained multiple gains that were significantly more common in males than in females, and within these regions, the differences were significant for Xp21, Xp11.3, Xp11.4 and Xq26. Regions 1p, 3q, 11q, 12p, 12q and 15q contained multiple sites of gain that were significantly more common in females than in males. Tumours from male and female patients showed significantly more losses at 11p and 15q, and at 4q and Xq, respectively. The fact that gains in X-chromosomal regions were detected with a significantly higher frequency in tumours from male patients suggests that the difference between the genders might be explained by X-chromosomal inactivation.

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Section: Discussionmentioning

confidence: 98%

Analysis of the Relationship between Sex and Chromosomal Aberrations in Colorectal Cancer by Comparative Genomic Hybridization

et al. 2006

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“…Comparative genomic hybridization analysis of 24 familial B-CLL cases demonstrated that the common regions of chromosomal loss observed in sporadic B-CLL occur at a comparable frequency in familial B-CLL. In addition, novel regions of gain and loss were identified at Xp21 ] p11.2 and Xq21 ] qter, 2p14 ] p12 and 4q11 ] q21 suggesting the presence of predisposition gene(s) at these loci (Summersgill et al, 2002). Linkage analysis of 18 families suggests a region of interest in band 13q22.1 (Goldin et al, 2003) and detailed mapping of this region identified a 3.68 Mb region containing 13 candidate genes (Ng et al, 2007).…”

Section: Familial Cllmentioning

confidence: 98%

“…Various genome-wide analyses have been performed in an attempt to identify potential susceptibility loci (Summersgill et al, 2002;Goldin et al, 2003;Sellick et al, 2005;Ng et al, 2006). Comparative genomic hybridization analysis of 24 familial B-CLL cases demonstrated that the common regions of chromosomal loss observed in sporadic B-CLL occur at a comparable frequency in familial B-CLL.…”

Section: Familial Cllmentioning

confidence: 99%

Genetic alteration associated with chronic lymphocytic leukemia

Cotter

Auer²

2007

Cytogenet Genome Res

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The genetics of B-cell chronic lymphocytic leukemia (B-CLL) differ considerably from most other forms of hematologic malignancy which are usually characterized by chromosome translocations. B-CLL typically contains chromosomal deletions and chromosomes 13q14 and 11q22→q23 are the most common. These two regions appear to share a common ancestral origin (Auer et al., 2007b). Overall, chromosomal abnormalities can be found in the majority of patients with B-CLL when using sensitive techniques (Dohneret al., 2000) and possibly reflects an underlying predisposition, with a small but significant number of familial cases. Although single and consistent abnormalities are most common, multiple rearrangements can occur, often with disease progression (Feganetal., 1995; Dohner et al., 2000). Regions of recurrent deletion suggest the presence of tumor suppressor genes if following Knudson’s theoretical 2-hit model. However, despite extensive sequencing analysis over the last decade and lack of pathogenic mutations identified, there has been a move away from this suggested hypothesis and alternative mechanisms of gene inactivation involving epigenetic silencing or haploinsufficiency may be considered as more likely in this disease. This review focuses on the common genetic abnormalities in B-CLL and relates them to some of the more recent hypotheses on inactivation of genes within these regions of deletion.

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“…Gains and losses in two regions of the X chromosome are more common in familial CLL compared with sporadic CLL [106]. These data, taken together with the fact that sex concordance in sibling pairs with familial CLL has been demonstrated [89] suggest that pseudoautosomal linkage as demonstrated in familial Hodgkin's lymphoma [90] may be relevant to familial CLL.…”

Section: Chronic Lymphocytic Leukemiamentioning

confidence: 85%

Familial Leukemias

Wiernik

2015

Curr. Treat. Options in Oncol.

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Familial leukemia has been described for more than 50 years but only recently have modern genetic techniques allowed for the investigation of the genome. Genome-wide association studies have identified a number of genetic sites that appear to relate to susceptibility to leukemia in certain families and occasionally to susceptibility to a specific leukemia in general. Many questions remain, including susceptibility to what? An oncogenic virus? An environmental chemical? Mutation of another gene induced by a heritable mutation-promoting gene?.Clinically important facts have been learned. Chronic lymphocytic leukemia (CLL) is by far the most common familial leukemia. Patients with CLL have approximately a 10% chance of a first-degree relative developing CLL, and even a greater chance of one developing monoclonal B-cell lymphocytosis which may be an asymptomatic forme fruste of the neoplasm. Furthermore, there may be an increased incidence of breast cancer in familial CLL pedigrees which raises the question of a common etiology for neoplasms in general, or at least a previously unrecognized relationship among them.

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Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis

Cited by 23 publications

References 9 publications

Analysis of the Relationship between Sex and Chromosomal Aberrations in Colorectal Cancer by Comparative Genomic Hybridization

Analysis of the Relationship between Sex and Chromosomal Aberrations in Colorectal Cancer by Comparative Genomic Hybridization

Genetic alteration associated with chronic lymphocytic leukemia

Familial Leukemias

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