26 Result(s)
within
D F Easton
Molecular Medicine
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Article
Open AccessFGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF...
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Open AccessBOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface
The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a risk prediction model that is used to compute probabilities of carrying mutations in the high-risk breast and ...
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Open AccessAssociation of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methyle...
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Open AccessEvaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor recep...
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Open AccessLymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours
Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expression of residual ATM kinase activity als...
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Open AccessIdentification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript
Genome-wide association studies (GWAS) have identified more than 30 prostate cancer (PrCa) susceptibility loci. One of these (rs2735839) is located close to a plausible candidate susceptibility gene, KLK3, which ...
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Open AccessPolygenic susceptibility to prostate and breast cancer: implications for personalised screening
We modelled the efficiency of a personalised approach to screening for prostate and breast cancer based on age and polygenic risk-profile compared with the standard approach based on age alone.
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Open AccessEvaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The...
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Open AccessProstate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis
The germline BRCA2 mutation is associated with increased prostate cancer (PrCa) risk. We have assessed survival in young PrCa cases with a germline mutation in BRCA2 and investigated loss of heterozygosity at BRC...
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Open AccessEvaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast canc...
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Open AccessThe TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide pol...
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Open AccessTagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer
Low–moderate risk alleles that are relatively common in the population may explain a significant proportion of the excess familial risk of ovarian cancer (OC) not attributed to highly penetrant genes. In this ...
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Open AccessA recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer
Although prostate cancer (PrCa) is one of the most common cancers in men in Western countries, little is known about the inherited factors that influence PrCa risk. On the basis of the fact that BRIP1/FANCJ in...
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Open AccessErratum: The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
Correction to: British Journal of Cancer (2008) 98, 1457–1466. doi:10.1038/sj.bjc.6604305 Owing to an error on the part of the authors, co-author Barbara Pasini's surname was incorrectly submitted to the journ...
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Open AccessThe BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
Multiple genetic loci confer susceptibility to breast and ovarian cancers. We have previously developed a model (BOADICEA) under which susceptibility to breast cancer is explained by mutations in BRCA1 and BRCA2,...
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Open AccessTesticular microlithiasis as a familial risk factor for testicular germ cell tumour
Testicular microlithiasis (TM) is characterised by small intratesticular calcifications, which can be visualised by ultrasound. Men with testicular germ cell tumour (TGCT) have a higher frequency of TM than me...
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Open AccessHapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer
ERBB2 is frequently amplified in breast tumours as part of a wide region of amplification on chromosome 17q21. This amplicon contains many candidate genes for breast cancer susceptibility. We used a genetic assoc...
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Open AccessInteractions between genes involved in the antioxidant defence system and breast cancer risk
The aim of the study is to examine the association between multilocus genotypes across 10 genes encoding proteins in the antioxidant defence system and breast cancer. The 10 genes are SOD1, SOD2, GPX1, GPX4, GSR,...
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Open AccessSingle-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population
A substantial proportion of the familial risk of breast cancer may be attributable to genetic variants each contributing a small effect. pRb controls the cell cycle and polymorphisms within it are candidates f...
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Open AccessReply: Remarks on the BOADICEA model of genetic susceptibility to breast and ovarian Cancer Research UK
