Trevor Cole
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View article: The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature
The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature Open
Objectives Precise and timely diagnosis is essential in the management of children born with atypical genitalia/differences or disorders of sex development (DSD) to provide optimal personalised care. Establishing the diagnosis can be chall…
View article: Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort Open
The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA) derived from aqueous humour (AH) can be u…
View article: Growth reference charts for children with hypochondroplasia
Growth reference charts for children with hypochondroplasia Open
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) …
View article: Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
PDF file - 90K
View article: Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 1. The 3,248 SNPs included in the study
View article: Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 3. Results of the statistical analyses of SNPs from project 12 in BRCA-mutation carriers affected or non-affected with breast cancer and according to their estrogen receptor status.
View article: Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 1 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 1. The 3,248 SNPs included in the study
View article: Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the e…
View article: Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer an…
View article: Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 2. Results of the statistical analyses in BRCA mutation carriers.
View article: Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Tables 1-4 from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
PDF file - 90K
View article: Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 2 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 2. Results of the statistical analyses in BRCA mutation carriers.
View article: Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Supplementary Table 3 from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Supplementary Table 3. Results of the statistical analyses of SNPs from project 12 in BRCA-mutation carriers affected or non-affected with breast cancer and according to their estrogen receptor status.
View article: Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer an…
View article: Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Data from Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Open
Background:BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the e…
View article: Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide…
View article: Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
View article: Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
View article: Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction
Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Open
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide…
View article: Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<scp>CDH</scp>+) using <scp>DECIPHER</scp> data
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<span>CDH</span>+) using <span>DECIPHER</span> data Open
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of t…
View article: The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care
The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care Open
The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care Authors: Eleanor Hay, Frances Elmslie, Peter Lanyon and Trevor Cole April 2021 Keywords: rare diseases, diagnostic odyss…
View article: The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma
The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma Open
Retinoblastoma is a childhood eye cancer, mainly caused by mutations in the RB1 gene, which can be somatic or constitutional. Unlike many other cancers, tumour biopsies are not performed due to the risk of tumour dissemination. As a result…
View article: Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Open
Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breas…
View article: Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction Open
The known breast cancer (BC) susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,LSP1 and 2q35 confer increased risks of BC for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of three additional SNPs, rs4973768 in SL…
View article: Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies Open
Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutatio…