Mechanism

TT: Decreased ability to repair or destory damaged DNA. [R]

C: Normal ability to repair or destory damaged DNA. [R]

 

The Minor allele “T” is associated with:

  • Increased risk for developing breast and ovarian cancer (TT). [R]

 

The Major allele “C” is associated with:

  • Normal risk for developing breast and ovarian cancer (CC and CT). [R]

 

 

[PMID 16111488] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.


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

 

rs4986852

Parent Gene: BRCA1

Importance: 1
Less common allele: T = 1%
More common allele: C = 99%
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