Paul D P Pharoah
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Explore the profile of Paul D P Pharoah including associated specialties, affiliations and a list of published articles.
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464
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24726
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Recent Articles
1.
Hoppe R, Winter S, Lo W, Michailidou K, Bolla M, Keeman R, et al.
NPJ Breast Cancer
. 2025 Feb;
11(1):18.
PMID: 39971965
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...
2.
Dicks E, Tyrer J, Ezquina S, Jones M, Baierl J, Peng P, et al.
Eur J Hum Genet
. 2025 Feb;
33(3):297-303.
PMID: 39939714
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,...
3.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla M, et al.
Breast Cancer Res
. 2024 Dec;
26(1):189.
PMID: 39734228
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk...
4.
Blows F, Ali H, Cope W, Pharoah P, Pike C, Provenzano E, et al.
BJC Rep
. 2024 Nov;
2(1):5.
PMID: 39516660
Background: Transglutaminase 2 (TGM2) is a protein expressed in several isoforms in both intra- and extra-cellular tissue compartments. It has multiple functions that are important in cancer biology and several...
5.
Stylianou C, Wiggins G, Lau V, Dennis J, Shelling A, Wilson M, et al.
Hum Genet
. 2024 Nov;
143(12):1481-1498.
PMID: 39495297
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown....
6.
McGee H, Bonner J, Egelston C, Fu Y, Flores O, Lindsey S, et al.
medRxiv
. 2024 Oct;
PMID: 39464256
The incidence of colorectal cancer (CRC) among individuals under age 50, or early-onset CRC (EOCRC), has been rising over the past few decades for unclear reasons, and the etiology of...
7.
Sherman M, Winham S, Vierkant R, McCauley B, Scott C, Schrup S, et al.
J Natl Cancer Inst
. 2024 Oct;
117(3):456-464.
PMID: 39412492
Background: Most breast biopsies are diagnosed as benign breast disease, with 1.5- to 4-fold increased breast cancer risk. Apart from pathologic diagnoses of atypical hyperplasia, few factors aid in breast...
8.
Yang X, Wu Y, Ficorella L, Wilcox N, Dennis J, Tyrer J, et al.
Br J Cancer
. 2024 Sep;
131(9):1473-1479.
PMID: 39294438
Background: The clinical validity of the multifactorial BOADICEA model for epithelial tubo-ovarian cancer (EOC) risk prediction has not been assessed in a large sample size or over a longer term....
9.
Zanti M, OMahony D, Parsons M, Dorling L, Dennis J, Boddicker N, et al.
medRxiv
. 2024 Sep;
PMID: 39281752
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), complicating...
10.
Ezquina S, Jones M, Dicks E, de Vries A, Peng P, Lawrenson K, et al.
Am J Epidemiol
. 2024 Aug;
PMID: 39191651
Common genetic variation throughout the genome together with rare coding variants identified to date explain about a half of the inherited genetic component of epithelial ovarian cancer risk. It is...