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BRCA1 and BRCA2

From SNPedia

SNPedia currently contains 1703 BRCA1 SNPs and 1949 BRCA2 SNPs. Some of the variations in these genes are linked to Breast cancer and ovarian cancer, and other variations are benign. See also BRCA1 and BRCA2 for individual gene discussions and links.

Microarray platforms used by DTC genomics testing companies such as FamilyTree DNA and 23andMe usually test a subset of substantially less than 100 BRCA1 or BRCA2 SNPs, typically, the most common ones. This results in both false positives (which includes being found positive for a variation that's benign) as well as false negatives (the person tested carries a bad mutation, but it won't be found since it's one of the many SNPs that aren't actually tested). So while DTC genomics testing may lead to useful results, it is not a substitute for the full genetic panel testing or gene sequencing that may be warranted by a family history of breast cancer.

The SNP list below shows which microarray platforms test for each SNP, along with that SNP's ClinVar significance and disease association; note that the most meaningful categories are CLNSIG 4 and 5, for "likely pathogenic" and "pathogenic", respectively, whereas 255 just means there's conflicting info:

 In geneOn microarrayClinVar CLNSIGClinVar CLNDBN
rs80358179BRCA1Ancestry v2255not specified
Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs4986852BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357446BRCA1255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
not specified
not provided
rs80357101BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
Tumor susceptibility linked to germline BAP1 mutations
rs80357150BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs397507246BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80356862BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
rs1799966BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
23andMe v4
255Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
Breast-ovarian cancer, familial 1
not specified
Hereditary breast and ovarian cancer syndrome
rs80358053BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
rs80358054BRCA1Ancestry v2255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
not provided
rs80356923BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs397509211BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80358015BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357389BRCA1255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
not provided
not specified
rs397509058BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80359876BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
rs1800709BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs397507247BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80357477BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
Tumor susceptibility linked to germline BAP1 mutations
rs80357064BRCA1255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
not provided
rs80357906BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs80358050BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357450BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80358051BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
Tumor susceptibility linked to germline BAP1 mutations
rs80357061BRCA1255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
rs80356959BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs41293459BRCA1HumanOmni1Quad255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
rs80357087BRCA1Ancestry v2255not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not specified
rs80357442BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
rs80356873BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80357498BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Tumor susceptibility linked to germline BAP1 mutations
not provided
rs80357382BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
rs80357104BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Tumor susceptibility linked to germline BAP1 mutations
not provided
rs80357268BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs1799967BRCA123andMe v1
23andMe v2
23andMe v3
Illumina Human 1M
23andMe v4
Ancestry v2
255not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80357713BRCA1
NBR2
255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs45553935BRCA123andMe v3
23andMe v4
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
rs80358145BRCA1Ancestry v2255Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357069BRCA1255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
rs386833395BRCA1
NBR2
Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
rs2227945BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v4
Ancestry v2
255not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
rs28897686BRCA123andMe v1
23andMe v2
23andMe v3
23andMe v4
Illumina Human 1M
255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not specified
Breast cancer
Hereditary breast and ovarian cancer syndrome
not provided
rs80357123BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
rs273899694BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
rs796856605BRCA1
NBR2
255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80187739BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Tumor susceptibility linked to germline BAP1 mutations
rs431825413BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80358033BRCA1Ancestry v2255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not specified
rs80358038BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
rs80358165BRCA1Ancestry v2255Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
... further results