|?|| (A;A) (A;G) (G;G) ||28|
One form of this SNP, known as N991D, A3199G or Asn991Asp for the nonsynonymous change it produces in the BRCA2
protein, has been reported to represent an increased risk for malignant melanoma
. In a Polish study of ~600 patients in comparison with ~3700 controls, the rs1799944
SNP was found to have an odds ratio of 1.8. Patients with the homozygous rs1799944(G;G)
genotype were present in 0.32% of malignant melanoma
cases vs. 0.13% of controls. [PMID 18024013
In two Chinese families with histories of inherited breast cancer, A1093C (Asn289His) in exon 10 and A3199G (Asn991Asp, i.e. rs1799944) in exon 11 of BRCA2 were found occurring together, and they were not seen in pooled control DNA.[PMID 15059511]
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 18553220] DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
|| not reviewed
|| Insufficiently evaluated not reviewed