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View article: Estimands for Clinical Effectiveness of Risk-Reducing Early Salpingectomy in Women With High Risk of Ovarian Cancer
Estimands for Clinical Effectiveness of Risk-Reducing Early Salpingectomy in Women With High Risk of Ovarian Cancer Open
Importance Risk-reducing early-salpingectomy (RRES) and delayed oophorectomy (DO) is a novel 2-stage alternative prevention strategy to risk-reducing salpingo-oophorectomy (RRSO) that avoids detrimental consequences of premature menopause.…
View article: Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE Open
Background Carriers of germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are at higher risk of developing breast and ovarian cancer than the general population. It is unclear if these PVs influence other breast or ovarian can…
View article: Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE Open
Background Carriers of germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are at higher risk of developing breast and ovarian cancer than the general population. It is unclear if these PVs influence other breast or ovarian can…
View article: A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer Open
Genetic variation at the 19q13.3 KLK locus is linked with prostate cancer susceptibility in men. The non-synonymous KLK3 single nucleotide polymorphism (SNP), rs17632542 (c.536 T > C; Ile163Thr-substitution in PSA) is associated with reduc…
View article: The psychosocial impact of prostate cancer screening for <i>BRCA1</i> and <i>BRCA2</i> carriers
The psychosocial impact of prostate cancer screening for <i>BRCA1</i> and <i>BRCA2</i> carriers Open
Objectives To report the long‐term outcomes from a longitudinal psychosocial study that forms part of the ‘Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and control…
View article: Hereditary gastrointestinal polyposis syndromes Rare Disease Collaborative Network consensus statement agreed at the RDCN meeting Birmingham 17th February 2022
Hereditary gastrointestinal polyposis syndromes Rare Disease Collaborative Network consensus statement agreed at the RDCN meeting Birmingham 17th February 2022 Open
NHS England set out in the Implementation Plan for the UK Strategy for Rare Diseases (https://www.england.nhs.uk/wp-content/uploads/2018/01/implementation-plan-uk-strategy-for-rare-diseases.pdf) that it would develop and implement Rare Dis…
View article: Supplementary Appendix from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Supplementary Appendix from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Supplementary Appendix reporting exploratory sensitivity analysis
View article: Supplementary Tables 1, 2, 3 and 4 from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Supplementary Tables 1, 2, 3 and 4 from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Supplementary Tables 1, 2, 3 and 4
View article: Data from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Data from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Tamoxifen reduces breast cancer incidence in women at increased risk, but may cause side effects. We examined women's knowledge of tamoxifen's potential harms and benefits, and the extent to which knowledge reflects subjective judgments of…
View article: Supplementary Appendix from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Supplementary Appendix from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Supplementary Appendix reporting exploratory sensitivity analysis
View article: Supplementary Tables 1, 2, 3 and 4 from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Supplementary Tables 1, 2, 3 and 4 from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Supplementary Tables 1, 2, 3 and 4
View article: Data from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy
Data from Knowledge of Potential Harms and Benefits of Tamoxifen among Women Considering Breast Cancer Preventive Therapy Open
Tamoxifen reduces breast cancer incidence in women at increased risk, but may cause side effects. We examined women's knowledge of tamoxifen's potential harms and benefits, and the extent to which knowledge reflects subjective judgments of…
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: Data from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA)
Data from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA) Open
Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.Methods: We used data from 4,325 BR…
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 Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA)
Data from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA) Open
Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.Methods: We used data from 4,325 BR…
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: Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA)
Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA) Open
PDF file - 127K
View article: Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA)
Supplementary Tables 1-9 from Pathology of Breast and Ovarian Cancers among <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from the Consortium of Investigators of Modifiers of <i>BRCA1</i>/<i>2</i> (CIMBA) Open
PDF file - 127K