BRCA1 and BRCA2
From SNPedia
SNPedia currently contains 2654 BRCA1 SNPs and 3151 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 fraction of the known BRCA1 or BRCA2 SNPs, typically, the most common ones. 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. This webpage from the Jackson Laboratory contains three important tips to know about direct-to-consumer BRCA1/2 testing.
The percent of known BRCA1 and BRCA2 syndrome disease-causing mutations that are tested by several companies is shown in the following table:
| Gene | ||||
|---|---|---|---|---|
| Company & chip version | BRCA1 | BRCA2 | ||
| 1% | 0% | |||
| 23andMe v5 | 15% | 23% | ||
| 54% | 49% | |||
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 gene | On microarray | ClinVar CLNSIG | ClinVar CLNDBN | |
|---|---|---|---|---|
| rs80358050 | BRCA1 | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome | |
| rs397509225 | BRCA1 | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided | |
| rs80357094 | BRCA1 | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 | |
| rs2227945 | BRCA1 | 23andMe v4 Ancestry v2 23andMe v5 Ancestry v2c 23andMe v3 FTDNA2 HumanOmni1Quad 23andMe v1 23andMe v2 Illumina Human 1M Ancestry v2d | 255 | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome |
| rs80358051 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome |
| rs273899694 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
| rs80358062 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 not specified |
| rs398122699 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 |
| rs80358087 | BRCA1 | 255 | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided | |
| rs41293463 | BRCA1 | 23andMe v4 23andMe v3 23andMe v2 Ancestry v2d | 255 | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided |
| rs41293459 | BRCA1 | HumanOmni1Quad | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| rs80357069 | BRCA1 | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast | |
| rs28897672 | BRCA1 | 23andMe v4 23andMe v3 23andMe v1 23andMe v2 Illumina Human 1M | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Breast carcinoma |
| rs80357164 | BRCA1 | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 | |
| rs80357382 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
| rs80356988 | BRCA1 | Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| rs386833395 | BRCA1 NBR2 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| rs397509211 | BRCA1 | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome | |
| rs80357061 | BRCA1 | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast | |
| rs16942 | BRCA1 | FamilyTreeDNA 23andMe v4 Ancestry v2 23andMe v5 Ancestry v2c 23andMe v3 FTDNA2 HumanOmni1Quad 23andMe v1 23andMe v2 Illumina Human 1M Ancestry v2d | 255 | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
| rs80358145 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| rs80358054 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
| rs80357253 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
| rs80358015 | BRCA1 | Ancestry v2 23andMe v5 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
| rs41293455 | BRCA1 | 23andMe v4 Ancestry v2c 23andMe v3 23andMe v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast and ovarian cancer syndrome not provided not specified |
| rs397507246 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| rs4986854 | BRCA1 | FamilyTreeDNA 23andMe v4 Ancestry v2 23andMe v5 Ancestry v2c 23andMe v3 FTDNA2 HumanOmni1Quad 23andMe v1 Illumina Human 1M Ancestry v2d | 255 | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Neoplasm of breast Hereditary cancer-predisposing syndrome |
| rs80357713 | BRCA1 NBR2 | 255 | Breast-ovarian cancer, familial 1 Pancreatic cancer 4 BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Familial cancer of breast Hereditary cancer-predisposing syndrome | |
| rs4986852 | BRCA1 | FamilyTreeDNA 23andMe v4 Ancestry v2 23andMe v5 23andMe v3 FTDNA2 HumanOmni1Quad 23andMe v1 23andMe v2 Illumina Human 1M Ancestry v2d | 255 | not provided not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
| rs80356959 | BRCA1 | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided | |
| rs80358033 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
| rs80357112 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified |
| rs80357906 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Ovarian neoplasm |
| rs1799966 | BRCA1 | FamilyTreeDNA 23andMe v4 Ancestry v2c 23andMe v3 FTDNA2 23andMe v1 23andMe v2 Illumina Human 1M Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided not specified |
| rs80357477 | BRCA1 | Ancestry v2 23andMe v5 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| rs80357498 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| rs28897686 | BRCA1 | 23andMe v4 23andMe v3 23andMe v1 23andMe v2 Illumina Human 1M | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Neoplasm of breast |
| rs80356929 | BRCA1 NBR2 | Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| rs397509231 | BRCA1 | 255 | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 | |
| rs80356862 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome |
| rs80358089 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
| rs80357093 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided |
| rs397507247 | BRCA1 | Ancestry v2 Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
| rs41293461 | BRCA1 | 23andMe v4 Ancestry v2c 23andMe v3 HumanOmni1Quad Ancestry v2d | 255 | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
| rs1800709 | BRCA1 | FamilyTreeDNA 23andMe v4 Ancestry v2 23andMe v5 23andMe v3 FTDNA2 HumanOmni1Quad 23andMe v1 23andMe v2 Illumina Human 1M Ancestry v2d | 255 | not provided not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
| rs80357450 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 |
| rs80357389 | BRCA1 | Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast |
| rs80357087 | BRCA1 | Ancestry v2 Ancestry v2c Ancestry v2d | 255 | not provided not specified Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast and ovarian cancer syndrome Breast carcinoma |
| rs80357522 | BRCA1 | Ancestry v2c Ancestry v2d | 255 | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
| rs80357268 | BRCA1 | Ancestry v2 23andMe v5 Ancestry v2d | 255 | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
| ... further results | ||||
