BRCA2

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is mentioned by
Full namebreast cancer 2, early onset
EntrezGene675
PheGenI675
VariationViewer675
ClinVarBRCA2
dbSNP675
SADR675
HugeNav675
wikipediaBRCA2
googleBRCA2
gopubmedBRCA2
EVSBRCA2
HEFalMpBRCA2
23andMeBRCA2
UniProtP51587
EnsemblENSG00000139618
OMIM600185
EVSBRCA2
# SNPs1497
 Max MagnitudeChromosome positionSummary
Rs1049239632,384,750
Rs1157165832,340,630
Rs1157174632,370,971
Rs1157174732,371,035
Rs1157183332,398,489
Rs1157183632,399,302
Rs12007420532,326,255
Rs13873477232,333,072
Rs14289912532,362,582
Rs14484832,332,592
Rs14598814632,319,282
Rs16954732,355,250
Rs179994332,316,435
Rs179994432,337,326
Rs179995432,340,455
Rs180140632,337,751
Rs180142632,398,747
Rs18067051132,341,109
Rs20026569232,339,435
Rs20152352232,319,180
Rs20611832,315,655
Rs27617481132,333,085
Rs27617481332,333,272
Rs27617481432,333,274
Rs27617481532,333,332
Rs27617481932,336,530
Rs27617482232,336,794
Rs27617482332,336,826
Rs27617482432,336,958
Rs27617482532,319,271
Rs27617482632,336,991
Rs27617483332,337,632
Rs27617483832,338,294
Rs27617483932,338,369
Rs27617484232,338,493
Rs27617484332,338,518
Rs27617484432,326,089
Rs27617484632,339,086
Rs27617484732,339,097
Rs27617484832,326,154
Rs27617485232,339,420
Rs27617485332,339,471
Rs27617485432,339,500
Rs27617485732,326,521
Rs27617485932,339,964
Rs27617486032,339,996
Rs27617486132,340,010
Rs27617486232,340,073
Rs27617486432,340,245
Rs27617486532,340,322
... further results


BRCA2 is a human tumor suppressor gene. Like most genes, variations in the BRCA2 gene can be either causal for a given disease, or associated with somewhat higher risk, or benign.

However, "causal" does not mean that there is a 100% certainty that a person with such a variant will develop the disease. The clinical synopsis in OMIM for cancers associated with causal BRCA2 mutations is [1]:

  • Mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
  • Lifetime risk of breast cancer in mutation carriers is 60 to 85%
  • Lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
  • Lifetime risk of breast cancer in male mutation carriers in 6%
  • Increased risk of bilateral breast cancer

There are over hundreds of BRCA2 variants that are considered causal, but almost all are very rare (far less than 1% frequency each). Perhaps the "least rare" causal BRCA2 SNP is:

See also BRCA1 and BRCA2 for an extensive list of breast cancer related SNPs (including variations of all types from benign to causal).

Many other variations of varying consequence are known. 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 is rs80359550. 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. [2]

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.