Rs28897672

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is asnp
is mentioned by
dbSNPrs28897672
hapmaprs28897672
hgdprs28897672
ensemblrs28897672
gopubmedrs28897672
scholarrs28897672
googlers28897672
pharmgkbrs28897672
hgvbaseg2prs28897672
medrefsnprs28897672
23andMers28897672
SNP Nexus

GeneBRCA1
Chromosome17
Orientationminus
Position38512029
GenotypeEffect
rs28897672(G;G)predisposition to breast cancer?
rs28897672(G;T)possible predisposition to breast cancer
rs28897672(T;T)normal


Genotypes Magnitude Summary
Rs28897672(A;A) 00
Rs28897672(G;G) 22 predisposition to breast cancer?
Rs28897672(G;T) possible predisposition to breast cancer
Rs28897672(T;T) 00 normal
rs28897672 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs28897672(T) allele encodes Cys, while the rare rs28897672(G) allele encodes Gly; this variation is also known as Cys61Gly or C61G.

A study of 66 Polish families affected with breast cancer or ovarian cancer, often diagnosed at a relatively young age (< 50 years old), screened for BRCA1 mutations by sequencing. The C61G mutation accounted for 20% of the identified mutations in this group of families.[PMID 10788334]

? (T;T)