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
# SNPs1376
 Max MagnitudeChromosome positionSummary
Rs11571746232,370,971
Rs11571747232,371,035
Rs11571833232,398,489
Rs1157183632,399,302
Rs138734772032,333,072
Rs142899125032,362,582
Rs144848232,332,592
Rs145988146032,319,282
Rs169547032,355,250
Rs1799943032,316,435
Rs1799944232,337,326
Rs1799954232,340,455
Rs1801406032,337,751
Rs1801426232,398,747
Rs180670511032,341,109
Rs200265692032,339,435
Rs201523522032,319,180
Rs276174814032,333,274
Rs276174815032,333,332
Rs276174819032,336,530
Rs276174823032,336,826
Rs276174824032,336,958
Rs276174825032,319,271
Rs276174826032,336,991
Rs276174833032,337,632
Rs276174838032,338,294
Rs276174843032,338,518
Rs276174844032,326,089
Rs276174846032,339,086
Rs276174847032,339,097
Rs276174848032,326,154
Rs276174852032,339,420
Rs276174853032,339,471
Rs276174857032,326,521
Rs276174859032,339,964
Rs276174860032,339,996
Rs276174862032,340,073
Rs276174864032,340,245
Rs276174865032,340,322
Rs276174866032,340,564
Rs276174867032,340,575
Rs276174868032,340,622
Rs276174871032,340,680
Rs276174874032,340,849
Rs276174875032,341,028
Rs276174876032,341,070
Rs276174889032,354,986
Rs276174890032,355,004
Rs276174896032,362,580
Rs276174900032,363,204
... 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.