The Gene for Multiple Familial Trichoepithelioma Maps to Chromosome 9p21

Harada, Hiroshi; Hashimoto, Ken; Ko, Minoru S.H.

doi:10.1111/1523-1747.ep12297860

Cited by 108 publications

(73 citation statements)

References 24 publications

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“…Two-point limit of detection-score analyses were performed for linkage between disease status and every marker using the MLINK program of Linkage software package version 5.1 (17) assuming a monogenic effect in a dominant mode of inheritance, a disease allele frequency of 1:10,000, and a penetrance of 98%. Locus order was derived from the human genome working draft database 6 for markers on chromosomes 9 and from Bignell et al (8) for markers on chromosome 16. Allele frequencies were adopted from the Genome Database, 5 where possible, or set to be equally distributed (CDRP23, 28, and D16S416).…”

Section: Methodsmentioning

confidence: 99%

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Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Salhi

Bornholdt²,

Oeffner³

et al. 2004

Cancer Research

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The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, whereas CYLD remained as a candidate. Mutation analysis identified a single bp germ-line deletion expected to result in truncation or absence of the encoded protein, which segregated with the multiple TE phenotype. In individual tumors, loss of heterozygosity at 16q or a somatic point mutation in the CYLD gene was detected. Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21.

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Section: Methodsmentioning

confidence: 99%

“…In 1996, Harada et al (6) reported linkage of autosomal dominant multiple TE to chromosome 9p21. However, in contrast to the notion of genetic identity of cylindroma and TE, defects of a tumor repressor gene on chromosome 16, CYLD, were documented to cause familial cylindromatosis (7,8).…”

Section: Introductionmentioning

confidence: 99%

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Salhi

Bornholdt²,

Oeffner³

et al. 2004

Cancer Research

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“…In 1996, Harada et al (1996) located a pathogenic gene of MFT on 9p21, but its target gene has not been identified, and there are many tumor suppressor genes in this location. In 2004, Zhang et al (2004) found that the CYLD gene located on chromosome 16q12-13 was the pathogenic gene for MFT in a Chinese pedigree.…”

Section: Discussionmentioning

confidence: 99%

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas

Li¹,

Guan²,

Xiao³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients. We performed mutational analysis of the germline CYLD gene in 8 Chinese multiple trichoepitheliomas patients, 6 of which were sporadic cases. A heterozygous missense mutation (c.1112C>A) in the 9th exon of the CYLD gene was detected in some mother-daughter patients. However, the germline CYLD mutation could not be detected in the 6 non- 9651©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (4): 9650-9655 (2014) Mutation analysis of multiple trichoepitheliomas familial cases. The results suggest that the pathogenesis of sporadic multiple trichoepitheliomas may differ from that of familial cases. Our findings also further confirmed the genetic heterogeneity of multiple trichoepitheliomas.

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“…5 The gene for multiple familial trichoepithelioma has been mapped to chromosome 9p21. 12 Clearly, it would be interesting to investigate whether trichoepitheliomas arising within the setting of familial cylindromatosis show alterations at this locus.…”

Section: Discussionmentioning

confidence: 99%

Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours

Leonard¹,

Chaggar²,

Jones³

et al. 2001

Journal of Clinical Pathology

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Aim-The gene for familial cylindromatosis (CYLD) has been localised to chromosome 16q, and has recently been cloned. Loss of heterozygosity (LOH) at 16q has also been demonstrated in sporadic cylindromas. The aim of this study was to investigate whether CYLD plays a role in the development of other skin appendage tumours. Methods-A total of 55 cases of skin adnexal tumours, comprising 12 diVerent types, and a control group of 14 squamous cell carcinomas (SCCs) and basal cell carcinomas (BCCs) were studied. Three microsatellites (D16S407 (16p), D16S304 (16q), and D16S308 (16q)) were analysed for LOH after microdissection from paraYn wax embedded sections using laser capture microdissection. Results-In keeping with previous data, a proportion of cylindromas exhibited LOH at markers on 16q, but not at 16p. The skin adnexal tumours showing a similar pattern included apocrine hydrocystomas, eccrine spiradenomas, and sebaceous adenoma. One case of syringoma showed LOH at 16q, and a further case at 16p, but not 16q. One case of eccrine hydrocystoma showed loss at 16p, but not 16q. The remaining tumours were either negative or non-informative. All tumours in the control group were either negative or non-informative, except for a single case of BCC showing LOH at 16q. Conclusion-CYLD may be involved in the development of skin adnexal tumours other than cylindromas. (J Clin Pathol 2001;54:689-692) Keywords: cylindromatosis locus CYLD; loss of heterozygosity; skin adnexal tumours The two most common skin tumours are squamous cell carcinomas (SCCs) and basal cell carcinomas (BCCs), which together account for 95% of non-melanoma skin cancers.

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The Gene for Multiple Familial Trichoepithelioma Maps to Chromosome 9p21

Cited by 108 publications

References 24 publications

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas

Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours

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