BRCA2

From SNPedia

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

• rs1799944, known as N991D; associated with melanoma
• rs766173, known as N289H
• rs144848, known as N372H
• rs4987117, known as T1915M
• rs1799954, known as R2034C
• rs11571746, known as S2835P
• rs11571747, known as E2856A
• rs4987047, known as I2944F
• rs11571833, known as K3326stop
• rs1801426, known as I3412V
• rs28897756, known as P3039P or 9345G/A

[PMID 16768547] Breast Cancer Our findings suggest that BARD1 Cys557Ser (rs28997576) is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk is amplified in carriers of the BRCA2 999del5 (codon 257, exon 9) mutation.

The relative risk of breast cancer associated with PALB2 mutations was estimated to be 2.3 ( two-fold ). This is similar to the increase in risk seen with the CHEK2, ATM and BRIP1 genes, reported by the same research group since 2002. PALB2 is the first low-risk gene protein product found that interacts with BRCA2 and all of the other low-risk genes, CHEK2, ATM and BRIP1, are linked to BRCA1. Together, these genes are thought to account for around two per cent of all breast cancer cases. [1]

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 BRCA2 founder mutation for breast cancer is considered to be "6174delT". This variation does not appear be represented currently in dbSNP, and therefore it lack an rs number as well as an entry in SNPedia. Information about it can be found in OMIM.

See also BRCA1 and BRCA2