Entry - #614740 - BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7 - OMIM

 
 
# 614740

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.1 {Basal cell carcinoma 7} 614740 AD 3 TP53 191170
Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
NEOPLASIA
- Basal cell carcinoma, cutaneous
MOLECULAR BASIS
- Susceptibility conferred by mutation in the tumor protein p53 gene (TP53, 191170.0041)
▲ Close

▼ TEXT

A number sign (#) is used with this entry because of evidence that susceptibility to basal cell carcinoma-7 (BCC7) is influenced by variation in the TP53 gene (191170) on chromosome 17p13.

For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).

▼ Molecular Genetics

To identify risk variants for cutaneous basal cell carcinoma, Stacey et al. (2011) performed a genomewide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. They imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222C (191170.0041) (odds ratio (OR) = 2.36, p = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. Stacey et al. (2011) then confirmed this association in non-Icelandic samples (OR = 1.75, p = 0.0060; overall OR = 2.16, p = 2.2 x 10(-20)). rs78378222 is in the 3-prime untranslated region of TP53 (191170) and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3-prime-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (see 176807) (OR = 1.44, p = 2.4 x 10(-6)), glioma (OR = 2.35, p = 1.0 x 10(-5)), and colorectal adenoma (see 608812) (OR = 1.39, p = 1.6 x 10(-4)). There was no observed effect for breast cancer (see 114480).


▼ REFERENCES

  1. Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others. A germline variant in TP53 polyadenylation signal confers cancer susceptibility. Nature Genet. 43: 1098-1103, 2011. [PubMed: 21946351, related citations] [Full Text]


Creation Date:
Ada Hamosh : 7/25/2012
Edit History:
carol : 10/21/2019
alopez : 07/25/2012

# 614740

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.1 {Basal cell carcinoma 7} 614740 Autosomal dominant 3 TP53 191170

TEXT

A number sign (#) is used with this entry because of evidence that susceptibility to basal cell carcinoma-7 (BCC7) is influenced by variation in the TP53 gene (191170) on chromosome 17p13.

For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).

Molecular Genetics

To identify risk variants for cutaneous basal cell carcinoma, Stacey et al. (2011) performed a genomewide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. They imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222C (191170.0041) (odds ratio (OR) = 2.36, p = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. Stacey et al. (2011) then confirmed this association in non-Icelandic samples (OR = 1.75, p = 0.0060; overall OR = 2.16, p = 2.2 x 10(-20)). rs78378222 is in the 3-prime untranslated region of TP53 (191170) and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3-prime-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (see 176807) (OR = 1.44, p = 2.4 x 10(-6)), glioma (OR = 2.35, p = 1.0 x 10(-5)), and colorectal adenoma (see 608812) (OR = 1.39, p = 1.6 x 10(-4)). There was no observed effect for breast cancer (see 114480).


REFERENCES

  1. Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., and 92 others. A germline variant in TP53 polyadenylation signal confers cancer susceptibility. Nature Genet. 43: 1098-1103, 2011. [PubMed: 21946351] [Full Text: https://doi.org/10.1038/ng.926]


Creation Date:
Ada Hamosh : 7/25/2012

Edit History:
carol : 10/21/2019
alopez : 07/25/2012



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 4, 2024