D F Easton

..89, based on five possible carriers) were also observed. One case of ocular melanoma, as well as a second eye cancer of unspecified histology, occurred in obligate gene carriers...

..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers...

..The high penetrance estimate for ovarian cancer, compared with other studies, suggests that modifying genetic or environmental factors may be important determinants of risk...

..The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families...

..8 (CI = 1.6, 2.0); mother and sister, RR = 3.6 (CI = 2.5, 5.0); and a second-degree relative, RR = 1.5 (CI = 1.4, 1.6). Risks were increased in subjects under age 50 and when the relative had been diagnosed before age 50...

..We discuss the implications for genetic testing and clinical management of familial ovarian cancer arising from the data presented in these studies...

..Our aim was, therefore, to compare contrast enhanced magnetic resonance imaging (CE MRI) with mammography for screening...

..These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population...

..We conclude that this model provides a rational basis for risk assessment in individuals with a FH of breast or ovarian cancer...

..Replication studies are needed to confirm the associations with breast cancer...

..12) nor a fifth round with more balanced proportion of missing values between cases and controls (P=0.17) was significant...

..A key unanswered question is the "genetic architecture" of predisposition-that is, strong or weak alleles, common or rare. We describe a genome-wide scan designed to provide a first-pass answer to this question...

..Such a model of susceptibility has implications for both risk prediction and for future gene identification studies...

..We are therefore likely to have tagged any common variants present in our population. In summary, we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women...

..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html)...

..To assess the putative associations between common variants in MMR genes and CRC, we performed a genetic case-control study using a single-nucleotide polymorphism (SNP) tagging approach...

..This is the first report of a germline mutation in a member of the steroid/thyroid hormone receptor superfamily associated with the development of cancer...

..Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals...

..This may have major implications for the sensitivity of all polymerase chain reaction-based mutation-detection methods in clinical genetic testing laboratories...

..We conclude that, in contrast to previous observations, if there is any effect of the AR repeat length on BRCA1 penetrance, it is likely to be weak...

..Because steroid hormone exposure is known to influence breast cancer risk, we conducted a population-based, case-control-family study to assess the relationship between the CYP17 promoter polymorphism and early-onset breast cancer...

..9 (0.7-1.1), Val/Val OR = 2.3 (0.4-12), and Val carrier OR = 1.0 (0.9-1.1)]...

..50, 95% CI 0.79-2.85) or to patients diagnosed >55 years (OR=1.27, 95% CI 0.59-2.74). We conclude that any association between the Thr541 variant and prostate cancer is likely to be weak...

..67; 95% CI: 0.97-2.87). The result of this study suggests that the GPX1 genotype is unlikely to be associated with the risk of developing prostate cancer...

..15 cancers have been detected to date, from a total of 1236 screening measurements. This event rate and the tumour grades reported are compared with recent reports from other studies in women at high risk of breast cancer...

..We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein...

..Using markers close to the cylindromatosis gene, consistent loss of the wild-type allele was observed in 19 tumours from four individuals in the two families, indicating that the gene is likely to be a tumour suppressor gene...

..82 in females and 1.38 in males. Therefore, this variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner...

..We suggest that TM is an alternative manifestation of a TGCT susceptibility allele...

..Currently, they are not identified in routine practice and no morphological guidelines exist to aid their identification. The aim of this study was to analyse the histological features of CK14+ IDC...

..These results provide evidence that the presence of common variants in the ATM gene, may confer an altered cellular phenotype, and that the ATM 3161C>G variant might be associated with prostate cancer risk...

..We interpret the data as indicating that MC1R variants do not appear to be major determinants of susceptibility to uveal melanoma...

..It is also unlikely that other, as yet unidentified, common polymorphisms that affect risk are present in the gene in the British population...

..No pathogenic mutations in FH were identified in any of the cases. This data makes it highly unlikely that mutations in FH confer susceptibility to prostate cancer...