BRCA2

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Full namebreast cancer 2, early onset
EntrezGene675
PheGenI675
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dbSNP675
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wikipediaBRCA2
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23andMeBRCA2
UniProtP51587
EnsemblENSG00000139618
OMIM600185
EVSBRCA2
# SNPs1375
  Max Magnitude Chromosome position Summary
Rs11571746 2 32,945,108
Rs11571747 2 32,945,172
Rs11571833 2 32,972,626
Rs11571836 32,973,439
Rs138734772 0 32,907,209
Rs142899125 0 32,936,719
Rs144848 2 32,906,729
Rs145988146 0 32,893,419
Rs169547 0 32,929,387
Rs1799943 0 32,890,572
Rs1799944 2 32,911,463
Rs1799954 2 32,914,592
Rs1801406 0 32,911,888
Rs1801426 2 32,972,884
Rs180670511 0 32,915,246
Rs200265692 0 32,913,572
Rs201523522 0 32,893,317
Rs276174814 0 32,907,411
Rs276174815 0 32,907,469
Rs276174819 0 32,910,667
Rs276174823 0 32,910,963
Rs276174824 0 32,911,095
Rs276174825 0 32,893,408
Rs276174826 0 32,911,128
Rs276174833 0 32,911,769
Rs276174838 0 32,912,431
Rs276174843 0 32,912,655
Rs276174844 0 32,900,226
Rs276174846 0 32,913,223
Rs276174847 0 32,913,234
Rs276174848 0 32,900,291
Rs276174852 0 32,913,557
Rs276174853 0 32,913,608
Rs276174857 0 32,900,658
Rs276174859 0 32,914,101
Rs276174860 0 32,914,133
Rs276174862 0 32,914,210
Rs276174864 0 32,914,382
Rs276174865 0 32,914,459
Rs276174866 0 32,914,701
Rs276174867 0 32,914,712
Rs276174868 0 32,914,759
Rs276174871 0 32,914,817
Rs276174874 0 32,914,986
Rs276174875 0 32,915,165
Rs276174876 0 32,915,207
Rs276174889 0 32,929,123
Rs276174890 0 32,929,141
Rs276174896 0 32,936,717
Rs276174900 0 32,937,341
… 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.