A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we
analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation
carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous
OC (P¼9.2 10 20), ER-negative BC (P¼1.1 10 13), BRCA1-associated BC (P¼7.7
10 16) and triple negative BC (P-diff¼2 10 5). Genotype-gene expression associations
are identified for candidate target genes ANKLE1 (P¼2 10 3) and ABHD8 (Po2 10 3).
Chromosome conformation capture identifies interactions between four candidate SNPs and
ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8
promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative
enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional
effects for an ANKLE1 30-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13
regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms
underlying breast and ovarian cancer risk.
Bradshaw, Evelyn; Harington, J.S.(Medical Association of South Africa, 1975-05-31)
Cancer mortality rates for Whites, Coloureds and Asians for the period 1949 - 1969 have been analysed, and a changing pattern has been found. Some comparisons with other countries have been made, and the risk for each race ...
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of ...
Opperman, Johanna Alberta(University of Pretoria, 2005-07-26)
Please read the abstract in the section 00front of this document Please cite as follows: Opperman JA, 2002, Die emosionele belewenis van 'n beenmurgoorplanting : 'n Maatskaplike Werk perspektief, MA dissertation, University ...