BRCA2

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is agene
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
# SNPs1377
 Max MagnitudeChromosome positionSummary
Rs1157174632,370,971
Rs1157174732,371,035
Rs1157183332,398,489
Rs1157183632,399,302
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
Rs27617481432,333,274
Rs27617481532,333,332
Rs27617481932,336,530
Rs27617482332,336,826
Rs27617482432,336,958
Rs27617482532,319,271
Rs27617482632,336,991
Rs27617483332,337,632
Rs27617483832,338,294
Rs27617484332,338,518
Rs27617484432,326,089
Rs27617484632,339,086
Rs27617484732,339,097
Rs27617484832,326,154
Rs27617485232,339,420
Rs27617485332,339,471
Rs27617485732,326,521
Rs27617485932,339,964
Rs27617486032,339,996
Rs27617486232,340,073
Rs27617486432,340,245
Rs27617486532,340,322
Rs27617486632,340,564
Rs27617486732,340,575
Rs27617486832,340,622
Rs27617487132,340,680
Rs27617487432,340,849
Rs27617487532,341,028
Rs27617487632,341,070
Rs27617488932,354,986
Rs27617489032,355,004
Rs27617489632,362,580
Rs27617490032,363,204
... 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.