Paul D.P. Pharoah
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View article: PREDICT breast v4.0: an update to the PREDICT breast prognostic model
PREDICT breast v4.0: an update to the PREDICT breast prognostic model Open
There were 172,208 eligible cases randomly split 50:50 into model development and validation data sets. Cox proportional hazards models were derived for estrogen receptor negative and estrogen receptor positive cancer for breast cancer spe…
View article: PREDICT breast v4.0: An update to the PREDICT breast prognostic model
PREDICT breast v4.0: An update to the PREDICT breast prognostic model Open
Objective The PREDICT breast prognostic and treatment benefit model has undergone several revisions since its release. The latest version (v3.1) was developed using a data set of 35,474 cases diagnosed between 2000 and 2017 in a single reg…
View article: PREDICT breast v4.0: An update to the PREDICT breast prognostic model
PREDICT breast v4.0: An update to the PREDICT breast prognostic model Open
The PREDICT breast prognostic and treatment benefit model has undergone several revisions since its first release. The most recent version (v3.1) was developed using a data set of 35,474 cases diagnosed between 2000 and 2017 in a single re…
View article: Measuring the accuracy of electronic health record (EHR)-based phenotyping in the <i>All of Us</i> Research Program to optimize statistical power for genetic association testing
Measuring the accuracy of electronic health record (EHR)-based phenotyping in the <i>All of Us</i> Research Program to optimize statistical power for genetic association testing Open
Accurate phenotyping is an essential task for researchers utilizing electronic health record (EHR)-linked biobank programs like the All of Us Research Program ( AoU ) to study human genetics. While their large cohort sizes offer increased …
View article: Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population
Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population Open
Background BOADICEA is a widely used algorithm for predicting breast and ovarian cancer risks, using a combination of genetic and lifestyle, hormonal and reproductive risk factors. However, it has largely been developed using data from Whi…
View article: Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy Open
With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is ne…
View article: Growth kinetics of high-grade serous ovarian cancer: implications for early detection
Growth kinetics of high-grade serous ovarian cancer: implications for early detection Open
Background High-grade serous ovarian cancer (HGSOC) is the most lethal gynaecological cancer with patients routinely diagnosed at advanced stages. Evidence from randomized controlled trials indicates that annual screening may not reduce ca…
View article: Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification Open
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complica…
View article: Adapting models with single time-to-event outcomes to include a competing outcome: an exemplar adjusting risk of recurrence after nephrectomy for clear cell renal cell carcinoma for death from other causes
Adapting models with single time-to-event outcomes to include a competing outcome: an exemplar adjusting risk of recurrence after nephrectomy for clear cell renal cell carcinoma for death from other causes Open
Background Risk prediction models, in particular prognostic models, are used by clinicians to inform care and communicate risks to patients. However, many time-to-event models typically consider only one disease-specific outcome, which lea…
View article: Assessing the Performance of the PREDICT Breast Version 3.0 Prognostic Tool in Patients With Breast Cancer in the United States
Assessing the Performance of the PREDICT Breast Version 3.0 Prognostic Tool in Patients With Breast Cancer in the United States Open
Background: PREDICT Breast version 3 (v3) is the latest updated prognostication tool, developed using data from approximately 35,000 women diagnosed with breast cancer between 2000 and 2018 in the United Kingdom. Although an earlier versio…
View article: Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records
Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records Open
Cancer Research UK.
View article: Comparison of supplemental breast cancer imaging techniques—interim results from the BRAID randomised controlled trial
Comparison of supplemental breast cancer imaging techniques—interim results from the BRAID randomised controlled trial Open
Cancer Research UK, GE Healthcare, and Bayer Healthcare.
View article: Characterizing somatic mutations in ovarian cancer germline risk regions
Characterizing somatic mutations in ovarian cancer germline risk regions Open
Epithelial ovarian cancer (EOC) genetics research has been focused on germline or somatic mutations independently. Emerging evidence suggests that the somatic mutational landscape can be shaped by the germline genetic background. In this s…
View article: Cellular origins of mucinous ovarian carcinoma
Cellular origins of mucinous ovarian carcinoma Open
Mucinous ovarian carcinoma (MOC) is a rare histotype of epithelial ovarian cancer. Its origins are obscure: while many mucinous tumours in the ovary are metastases from the gastrointestinal tract, MOC can occur as an ovarian primary; howev…
View article: Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer
Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer Open
The role of germline genetics in adjuvant aromatase inhibitor (AI) treatment efficacy in ER-positive breast cancer is poorly understood. We employed a two-stage candidate gene approach to examine associations between survival endpoints and…
View article: Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer Open
Rare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithel…
View article: Long-term outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer
Long-term outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer Open
Objectives To investigate the association between bilateral salpingo-oophorectomy (BSO) and long-term health outcomes in women with a personal history of breast cancer. Methods and analysis We used data on women diagnosed with invasive bre…
View article: S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations
S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations Open
While polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common germline variants on inherited disease risk, they are presently limited by reduced performance outside of European…
View article: Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia Open
BACKGROUND: Expansion of genome-wide association studies across population groups is needed to improve our understanding of shared and unique genetic contributions to breast cancer. We performed association and replication studies guided b…
View article: Genetic Causes of Sudden Cardiac Arrest in the Community
Genetic Causes of Sudden Cardiac Arrest in the Community Open
Background Annually 300,000 Americans experience sudden cardiac arrest (SCA). Studies in referral SCA cohorts have observed rare variants in genes associated with arrhythmia and cardiomyopathy. We sought to: (1) establish the population pr…
View article: Growth kinetics of high-grade serous ovarian cancer using longitudinal clinical data - implications for early detection
Growth kinetics of high-grade serous ovarian cancer using longitudinal clinical data - implications for early detection Open
High-grade serous ovarian cancer (HGSOC) is the most lethal gynaecological cancer with patients routinely diagnosed at advanced stages with widespread disease. Evidence from screening trials indicates that early diagnosis may not reduce ca…
View article: Validation of the PREDICT Breast Version 3.0 Prognostic Tool in US Breast Cancer Patients
Validation of the PREDICT Breast Version 3.0 Prognostic Tool in US Breast Cancer Patients Open
Background PREDICT Breast v3 is the latest updated prognostication tool, developed from the breast cancer registry of approximately 35,000 women diagnosed between 2000 and 2018 in the United Kingdom. However, its performance in the United …
View article: Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer
Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer Open
BACKGROUNDDespite an overall poor prognosis, about 15% of patients with advanced-stage tubo-ovarian high-grade serous carcinoma (HGSC) survive 10 or more years after standard treatment.METHODSWe evaluated the tumor microenvironment of this…
View article: Second Primary Cancer Risks After Breast Cancer in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant Carriers
Second Primary Cancer Risks After Breast Cancer in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant Carriers Open
PURPOSE Second primary cancer (SPC) risks after breast cancer (BC) in BRCA1/BRCA2 pathogenic variant (PV) carriers are uncertain. We estimated relative and absolute risks using a novel linkage of genetic testing data to population-scale Na…
View article: Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study Open
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effect…