Important Haplotype Information for BRCA1
Submitted by: Amy Hodge (PharmGKB)
Reviewed by: Under Review
Submitted date: July 17, 2006
| Gene HGNC Name: | BRCA1 |
|---|---|
| Haplotype Significance: | Several haplotype analyses of BRCA1 mutations have been reported [PMID: 12466288, 9333265, 15829246, Judkins et al. 2003]. These studies show that despite the large number of mutations identified thus far for BRCA1, most individuals can be segregated into a fairly small number of haplotypes. One analysis found four of ten haplotypes were present in all of the populations they studied (Asian-American, African-American, European-American, and Hispanic-American), and these four haplotypes together accounted for the majority of individuals in each population [PMID: 12466288]. By far the largest haplotype study on BRCA1 is by Judkins et al., from Myriad Genetic Laboratories [Judkins et al. 2003, 15829246]. They analyzed data for 25,000 individuals and identified ten haplotypes based on 14 common biallelic polymorphisms. These ten haplotypes describe 99% of the chromosomes from the 25,000 individuals and fall into two distinct clades. |
| Definitive Publication or Website: | Judkins T, Schwensen C, Hendrickson GC, Harpending H, Barrus J, Scholl T. Automated haplotyping in BRCA1 and localization of polymorphisms on alleles. Am J Hum Genet 2003; 73 (Suppl.): 409. Review: [PMID: 15829246] See also [PMID: 12466288, 9333265] |
| How many SNPs, indels, repeats define this haplotype? | 14 polymorphisms define 10 haplotypes. |