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rs80357063(A;C)

From SNPedia
(Redirected from I5010219(G;T))

BRCA1 variant considered pathogenic for breast cancer
Is agenotype
ofrs80357063
GeneBRCA1
Chromosome17
Position43,093,222
mentionedby
Magnitude6
ReputeBad
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer

See details at rs80357063. This is a genotype with recommended actions. In brief:

  • More frequent and more intensive screening for breast and ovarian cancer is recommended starting at perhaps age 25; however, screening has not been shown to reduce breast cancer incidence.
  • Prophylactic surgery (e.g. bilateral mastectomy or salpingo-oophorectomy) has been shown to substantially reduce the risk for, as well as mortality from, breast or ovarian cancer in both high-risk women and those who are BRCA mutation carriers.
  • Genetic counseling and/or testing is recommended for first-degree relatives as well as the same surveillance as carriers.


The full ClinGen Actionability report about Hereditary Breast and Ovarian Cancer can be found here.