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rs144848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 2 very slightly increased breast cancer risk
(G;T) 1.5 very slightly increased breast cancer risk
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome13
Position32332592
GeneBRCA2
is asnp
is mentioned by
dbSNPrs144848
dbSNP (classic)rs144848
ClinGenrs144848
ebirs144848
HLIrs144848
Exacrs144848
Gnomadrs144848
Varsomers144848
LitVarrs144848
Maprs144848
PheGenIrs144848
Biobankrs144848
1000 genomesrs144848
hgdprs144848
ensemblrs144848
geneviewrs144848
scholarrs144848
googlers144848
pharmgkbrs144848
gwascentralrs144848
openSNPrs144848
23andMers144848
SNPshotrs144848
SNPdbers144848
MSV3drs144848
GWAS Ctlgrs144848
GMAF0.2401
Max Magnitude2
? (G;G) (G;T) (T;T) 28


This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (G), encoding the His; the SNP is also known as N372H or Asn372His.

In a separate study, rs144848(G;G) homozygotes were determined to have a 1.31x increased risk (CI: 1.07-1.61) for breast cancer greater risk compared to (T;T) genotypes. Interestingly, in normal females of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes (with an estimated fitness of 0.82 in females and 1.38 in males). This implies that rs144848 affects fetal survival in a sex-dependent manner. [PMID 11062481]



[PMID 19902366OA-icon.png] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study

OMIM600185
Desc
Variant0013
Relatedalso


ClinVar
Risk Rs144848(G;G)
Alt Rs144848(G;G)
Reference Rs144848(T;T)
Significance Non-pathogenic
Disease Breast-ovarian cancer not provided not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000013.10:g.32906729A\x3d; NC_000013.10:g.32906729A>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000112880.1, RCV000009916.7, RCV000034427.1, RCV000120303.6, RCV000130720.3, RCV000207052.1, RCV000260146.1, RCV000320173.2, RCV000468776.1,



[PMID 12466288OA-icon.png] Haplotype and linkage disequilibrium architecture for human cancer-associated genes.


[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.


[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 17428325OA-icon.png] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.


[PMID 18086758OA-icon.png] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.


[PMID 18431743OA-icon.png] Consortium analysis of 7 candidate SNPs for ovarian cancer.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18579371OA-icon.png] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.


[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19500380OA-icon.png] LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.


[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.


[PMID 20003265OA-icon.png] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.


[PMID 22430443OA-icon.png] Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.



[PMID 23964347OA-icon.png] Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study