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BRCA1

From SNPedia

is agene
is mentioned by
Full namebreast cancer 1, early onset
EntrezGene672
PheGenI672
VariationViewer672
ClinVarBRCA1
dbSNP672
SADR672
HugeNav672
wikipediaBRCA1
googleBRCA1
gopubmedBRCA1
EVSBRCA1
HEFalMpBRCA1
MyGene2BRCA1
23andMeBRCA1
UniProtP38398
EnsemblENSG00000012048
OMIM113705
# SNPs1602
 Max MagnitudeChromosome positionSummary
I400037841,209,079
I4000459
I400046141,245,992
I500557141,243,941
I5009493
I5009511
I5009520
I5009526
I5009536
I5009541
I5009546
I5009552
I5009553
I5009555
I5009558
I5009624
I5010017
I5010037
I5010039
I5010046
I5010082
I5010086
I5010089
I5010112
I5010136
I5010138
I5010140
I5010150
I5010180
I5010190
I5010203
I5010209
I5010217
I5010219
I5010223
I5010233
I5010237
I5010261
I5010280
I5010292
I5010302
I5010306
I5010326BRCA1 pathogenic mutation
I6008219
I6008229
I6008282
I6008289
I6008291
I6051897
I605189941,258,551
... further results


BRCA1 is a human tumor suppressor gene. Like most genes, variations in the BRCA1 gene can be either causal for a given disease, or associated with somewhat higher risk, or benign.

However, "causal" does not mean that there is a 100% certainty that a person with such a variant will develop the disease. For individuals with causal BRCA1 variations, a good clinical summary provided by OMIM states the disease odds as[1]:

  • Mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
  • Lifetime risk of breast cancer in mutation carriers is 80 to 90%
  • Lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
  • Increased risk of bilateral breast cancer


There are over 500 BRCA1 variants that are considered causal, but almost all are very rare. It is estimated that all causal BRCA mutations combined occur in less than 1/3rd of 1% of people. Some of "slightly less rare" causal BRCA1 SNPs include:


Other causal BRCA1 mutations include:

  • rs28897696, known as A1708E, predicted to be highly linked & causative
  • rs55770810, known as R1699W, predicted to be linked & causative


Many other variations of varying consequence are known. These include:


This report from the NCI advises:

  • The cost for genetic testing can range from several hundred to several thousand dollars.
  • because the results of genetic tests can affect a person's health insurance coverage, some individuals may not want to use their insurance to pay for testing
  • it can take several weeks or months for test results to become available


See also BRCA1 and BRCA2 for an extensive list of breast cancer related SNPs (including variations of all types from benign to causal).