Skip to content

Melanoma/Skin Cancer Health Center

Font Size

Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Squamous Cell Carcinoma

continued...

Epidermodysplasia verruciformis

Mutations in either of two adjacent genes on chromosome 17q25 can cause epidermodysplasia verruciformis, a rare heritable disorder associated with increased susceptibility to human papillomavirus (HPV). Infection with certain HPV subtypes can lead to development of generalized nonresolving verrucous lesions, which develop into in situ and invasive SCCs in 30% to 60% of patients.[115] Malignant transformation is thought to occur in about half of these lesions. Approximately 90% of these lesions are attributed to HPV types 5 and 8,[116] although types 14, 17, 20, and 47 have occasionally been implicated. The association between HPV infection and increased risk of SCC has also been demonstrated in people without epidermodysplasia verruciformis; one case-control study found that HPV antibodies were found more frequently in the plasma of individuals with SCC (OR, 1.6; 95% CI, 1.2–2.3) than in plasma from cancer-free individuals.[117]

The genes associated with this disorder, EVER1 and EVER2, were identified in 2002.[118] The inheritance pattern of these genes appears to be autosomal recessive; however, autosomal dominant inheritance has also been reported.[119,120] Both of these gene products are transmembrane proteins localized to the endoplasmic reticulum, and they likely function in signal transduction. This effect may be through regulation of zinc balance; it has been shown that these proteins form a complex with the zinc transporter 1 (ZnT-1), which is, in turn, blocked by certain HPV proteins.[121]

A recent case-control study examined the effect of a specific EVER2 polymorphism (rs7208422) on the risk of cutaneous SCC in 239 individuals with prior SCC and 432 controls. This polymorphism is a (A > T) coding single nucleotide polymorphism in exon 8, codon 306 of the EVER2 gene. The frequency of the T allele among controls was 0.45. Homozygosity for the polymorphism caused a modest increase in SCC risk, with an adjusted OR of 1.7 (95% CI, 1.1–2.7) relative to wild-type homozygotes. In this study, those with one or more of the T alleles were also found to have increased seropositivity for any HPV and for HPV types 5 and 8, as compared with the wild type.[122]

1|2|3|4|5|6|7|8|9|10|11|12|13|14|15|16|17|18|19|20|21|22
Next Article:

Today on WebMD

Malignant melanoma
About 40-50 percent of those who live to be 65 may get it. Here’s how to spot early.
Woman checking out tan lines
There’s a dark side to that strive for beauty. See them here.
 
sauteed cherry tomatoes
Fight cancer one plate at a time.
Lung cancer xray
See it in pictures, plus read the facts.
 
12 Ways to Protect Your Skin from Melanoma
ARTICLE
precancerous lesions slideshow
SLIDESHOW
 
Do You Know Your Melanoma ABCs
VIDEO
15 Cancer Symptoms Men Ignore
ARTICLE
 
screening tests for men
SLIDESHOW
Vitamin D
SLIDESHOW
 
Is That Mole Skin Cancer
VIDEO
Brilliant sun rays
Quiz
 

WebMD Special Sections