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rs587776716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Significantly increased risk for melanoma and pancreatic cancer
(-;CGGGTCGGGTGAGAGTGGC) 4 Significantly increased risk for melanoma and pancreatic cancer
(CGGGTCGGGTGAGAGTGGC;CGGGTCGGGTGAGAGTGGC) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position21971115
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs587776716
ebirs587776716
HLIrs587776716
Exacrs587776716
Varsomers587776716
Maprs587776716
PheGenIrs587776716
hapmaprs587776716
1000 genomesrs587776716
hgdprs587776716
ensemblrs587776716
gopubmedrs587776716
geneviewrs587776716
scholarrs587776716
googlers587776716
pharmgkbrs587776716
gwascentralrs587776716
openSNPrs587776716
23andMers587776716
23andMe allrs587776716
SNP Nexus

SNPshotrs587776716
SNPdbers587776716
MSV3drs587776716
GWAS Ctlgrs587776716
Max Magnitude5
rs587776716, known best as p16-Leiden but also as c.226_244del19, represents a rare mutation in the CDKN2A gene on chromosome 9.

Noticed first and studied primarily in Dutch families with atypical multiple-mole melanoma, the deletion form of rs587776716 has now been linked to significantly increased risk for pancreatic cancer in addition to malignant melanoma. There do appear to be modifiers in the genomes of some individuals that can reduce the cancer risk of this allele.

Increased screening of individuals with the p16-Leiden for both moles and pancreatic cancer is likely to be beneficial.[PMID 27114589]

A detailed description of this allele and studies about it can be found in OMIM 600160.0003.


ClinVar
Risk rs587776716(;)
Alt rs587776716(;)
Reference rs587776716(CGGGTCGGGTGAGAGTGGC;CGGGTCGGGTGAGAGTGGC)
Significance Other
Disease Melanoma Melanoma-pancreatic cancer syndrome Orolaryngeal cancer
Variation info
Gene CDKN2A
CLNDBN Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma-pancreatic cancer syndrome Orolaryngeal cancer, multiple
Reversed 0
HGVS NC_000009.11:g.21971114_21971132del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000010013.3, RCV000010015.4, RCV000010016.2,