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rs180177132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 Fanconi anemia, complementation group N
(A;G) 4 4x increased risk of breast cancer
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23621362
GenePALB2
is asnp
is mentioned by
dbSNPrs180177132
ebirs180177132
HLIrs180177132
Exacrs180177132
Varsomers180177132
Maprs180177132
PheGenIrs180177132
hapmaprs180177132
1000 genomesrs180177132
hgdprs180177132
ensemblrs180177132
gopubmedrs180177132
geneviewrs180177132
scholarrs180177132
googlers180177132
pharmgkbrs180177132
gwascentralrs180177132
openSNPrs180177132
23andMers180177132
23andMe allrs180177132
SNP Nexus

SNPshotrs180177132
SNPdbers180177132
MSV3drs180177132
GWAS Ctlgrs180177132
Max Magnitude7

rs180177132, also known as c.3113G>A or p.Trp1038*, represents a very rare mutation in the PALB2 gene on chromosome 16.

A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177132(A) carriers had an odds ratio of 4.2 (CI:1.8-9.6; p=6.9×10e-8) and a 95% (CI: 44-99%) chance of developing the disease by age 70.10.1136/jmedgenet-2016-103839


ClinVar
Risk rs180177132(A;A)
Alt rs180177132(A;A)
Reference rs180177132(G;G)
Significance Other
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast cancer not provided
Variation info
Gene PALB2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast cancer, susceptibility to not provided
Reversed 1
HGVS NC_000016.9:g.23632683C>T
CLNSRC Inc. OMIM Allelic Variant PALB2 database
CLNACC RCV000114591.10, RCV000116096.7, RCV000144703.3, RCV000212822.2,


[PMID 17200668OA-icon.png] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.


[PMID 18302019] Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.


[PMID 21182766OA-icon.png] A PALB2 mutation associated with high risk of breast cancer.


[PMID 21285249OA-icon.png] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.


[PMID 21409391] BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.