Multiple self-healing squamous epithelioma (MSSE): Rare variants in an adjacent region of chromosome 9q22.3 to Known TGFBR1 mutations suggest a digenic or multilocus etiology

Journal of Investigative Dermatology

Volumn 133, Issue 7, 2013, Pages 1907-1910

  Chung Kang, Hio ^a   Quigley, David A ^a   Kim, Il Jin ^a   Wakabayashi, Yuichi ^b   Ferguson Smith, Malcolm A ^c   D'Alessandro, Mariella ^d,e   Birgitte Lane, E ^d,f   Akhurst, Rosemary J ^g   Goudie, David R ^h   Balmain, Allan ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHIBA CANCER CENTER   (Japan)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^f INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

C9ORF3 GENE; CANCER SUSCEPTIBILITY; CHROMOSOME 9Q; CONTROLLED STUDY; FAM120A GENE; FANCC GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; LETTER; MULTIPLE SELF HEALING CARCINOMA; MUTATIONAL ANALYSIS; PHF2 GENE; PRIORITY JOURNAL; PTCH1 GENE; SQUAMOUS CELL CARCINOMA; TGFBR1 GENE;

EID: 84879414757     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.45     Document Type: Letter

References (11)

1. Benzinou M, Clermont FF, Letteboer TG et al. (2012) Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary hae-morrhagic telangiectasia. Nat Commun 10:616
2. Bose S, Morgan LJ, Booth DR et al. (2006) The elusive multiple self-healing squamous epithe-lioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. Onco-gene 25:806-12 (Pubitemid 43214706)
3. D'Alessandro M, Coats SE, Morley SM et al. (2007) Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? J Invest Dermatol 127:2336-44 (Pubitemid 47619765)
4. Ferguson-Smith J (1934) A case of multiple primary squamous-celled carcinomata in a young man, with spontaneous healing. Br J Dermatol 46:267
5. Goudie DR, D'Alessandro M, Merriman B et al. (2011) Multiple self-healing squamous epithe-lioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet 43:365-9
6. Goudie DR, Yuille MA, Leversha MA et al. (1993) Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry. Nat Genet 3:165-9 (Pubitemid 23079800)
7. Hahn H, Wicking C, Zaphiropoulous PG et al. (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-51 (Pubitemid 26192135)
8. Johnson RL, Rothman AL, Xie J et al. (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-71 (Pubitemid 26200029)
9. Loeys BL, Chen J, Neptune ER et al. (2005) A syndrome of altered cardiovascular, craniofa-cial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275-81 (Pubitemid 41716254)
10. Sinha S, Singh RK, Alam N et al. (2008) Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: Pathological significance in early-and late-onset breast carcinoma. Mol Cancer 7:84
11. Wakabayashi Y, Mao JH, Brown K et al. (2007) Promotion of H-ras-induced squamous carcinomas by a polymorphic variant of the Patched gene in FVB mice. Nature 445:761-5 (Pubitemid 46279707) and Skin Diseases