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BRCA2

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Full namebreast cancer 2, early onset
EntrezGene675
PheGenI675
VariationViewer675
ClinVarBRCA2
dbSNP675
SADR675
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wikipediaBRCA2
googleBRCA2
gopubmedBRCA2
EVSBRCA2
HEFalMpBRCA2
23andMeBRCA2
UniProtP51587
EnsemblENSG00000139618
OMIM600185
EVSBRCA2
# SNPs1375
  Max Magnitude Chromosome position Summary
Rs11571746 2 32,370,971
Rs11571747 2 32,371,035
Rs11571833 2 32,398,489
Rs11571836 32,399,302
Rs138734772 0 32,333,072
Rs142899125 0 32,362,582
Rs144848 2 32,332,592
Rs145988146 0 32,319,282
Rs169547 0 32,355,250
Rs1799943 0 32,316,435
Rs1799944 2 32,337,326
Rs1799954 2 32,340,455
Rs1801406 0 32,337,751
Rs1801426 2 32,398,747
Rs180670511 0 32,341,109
Rs200265692 0 32,339,435
Rs201523522 0 32,319,180
Rs276174814 0 32,333,274
Rs276174815 0 32,333,332
Rs276174819 0 32,336,530
Rs276174823 0 32,336,826
Rs276174824 0 32,336,958
Rs276174825 0 32,319,271
Rs276174826 0 32,336,991
Rs276174833 0 32,337,632
Rs276174838 0 32,338,294
Rs276174843 0 32,338,518
Rs276174844 0 32,326,089
Rs276174846 0 32,339,086
Rs276174847 0 32,339,097
Rs276174848 0 32,326,154
Rs276174852 0 32,339,420
Rs276174853 0 32,339,471
Rs276174857 0 32,326,521
Rs276174859 0 32,339,964
Rs276174860 0 32,339,996
Rs276174862 0 32,340,073
Rs276174864 0 32,340,245
Rs276174865 0 32,340,322
Rs276174866 0 32,340,564
Rs276174867 0 32,340,575
Rs276174868 0 32,340,622
Rs276174871 0 32,340,680
Rs276174874 0 32,340,849
Rs276174875 0 32,341,028
Rs276174876 0 32,341,070
Rs276174889 0 32,354,986
Rs276174890 0 32,355,004
Rs276174896 0 32,362,580
Rs276174900 0 32,363,204
… further results


Certain variations in BRCA2 have been linked to breast cancer or other cancers. These include:

  • rs1799944 (also known as N991D), risk allele G; associated with melanoma
  • rs766173 (also known as N289H), risk allele G
  • rs144848 (also known as N372H or Asn372His), risk allele G
  • rs4987117 (also known as T1915M), risk allele T
  • rs1799954 (also known as R2034C), risk allele T
  • rs11571746 (also known as S2835P), risk allele C
  • rs11571747 (also known as E2856A), risk allele C
  • rs4987047 (also known as I2944F), risk allele T
  • rs11571833 (also known as K3326stop), risk allele T
  • rs1801426 (also known as I3412V), risk allele G
  • rs28897756 (also known as P3039P or 9345G/A), risk allele A. Researchers suggest that a SNP in the BARD1 gene (also called BARD1 Cys557Ser) 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, which appears to be this SNP (rs28897756). [PMID 16768547]
  • Among Ashkenazi Jews, the BRCA2 founder mutation for breast cancer is considered to be 6174delT. This variation currently lacks an rs number. 23andMe reports it as i4000379 (DD or DI). The deletion is the risk allele. See the discussion in [OMIM].

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 2 percent 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.

See also BRCA1.