BRCA1

From SNPedia

Certain variations in this gene have been linked to Breast Cancer or other cancers. These include:

• rs28897696, known as A1708E, predicted to be highly linked & causative
• rs55770810, known as R1699W, predicted to be linked & causative
• rs1799950, known as Q356R
• rs4986850, known as D693N
• rs2227945, known as S1140G
• rs16942, known as K1183R
• rs1799966, known as S1613G
• rs41293463, known as M1775R
• rs1800709, known as R841W
• rs41293455, known as R1443G or R1443*
• rs4986852, known as S1040N
• rs28897672, known as C61G

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

Among Ashkenazi Jews, the BRCA1 founder mutations for breast cancer are considered to be "5382insC" and "185delAG". These variations do not appear to be represented currently in dbSNP, and therefore they lack rs numbers and entries in SNPedia. Information about them can be found in OMIM.

• 185delAG BRCA1 i4000377 (DD or DI); dbSNP rs77944974 rsid is pending
• 5382insC BRCA1 i4000378 (II or DI); dbSNP rs76171189 rsid is pending
• 6174delT BRCA2 i4000379 (DD or DI)

See also BRCA1 and BRCA2