Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

…, H Gregory, J Eason, J Barwell… - JNCI: Journal of the …, 2013 - academic.oup.com
Background Reliable estimates of cancer risk are critical for guiding management of BRCA1
and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates …

Germline mutations in RAD51D confer susceptibility to ovarian cancer

…, M Warren-Perry, K Snape, JW Adlard, J Barwell… - Nature …, 2011 - nature.com
Recently, RAD51C mutations were identified in families with breast and ovarian cancer 1 .
This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We …

[HTML][HTML] The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

DGR Evans, J Barwell, DM Eccles, A Collins… - Breast Cancer …, 2014 - Springer
It is frequent for news items to lead to a short lived temporary increase in interest in a particular
health related service, however it is rare for this to have a long lasting effect. In 2013, in …

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

…, A Rimmer, NM Walker, TP Yang, JW Adlard, J Barwell… - Nature, 2013 - nature.com
Improved sequencing technologies offer unprecedented opportunities for investigating the
role of rare genetic variation in common disease. However, there are considerable …

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

…, K Aittomäki, IL Andrulis, P Ang, J Barwell… - Journal of clinical …, 2020 - ascopubs.org
PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and
to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers …

[HTML][HTML] Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

…, R Chen-Shtoyerman, DJ Amor, L Copakova, J Barwell… - European urology, 2014 - Elsevier
Background Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2,
early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) …

Cowden's syndrome with immunodeficiency

…, V Carbonaro, K Okkenhaug, J Barwell - Journal of Medical …, 2015 - jmg.bmj.com
Background Cowden's syndrome is a rare, autosomal dominant disease caused by mutations
in the phosphoinositide 3-kinase and phosphatase and tensin homolog (PTEN) gene. It is …

[HTML][HTML] Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: a prospective cohort study

…, DG Evans, E Bancroft, J Adlard, M Ahmed, J Barwell… - European urology, 2020 - Elsevier
Background BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa)
risk but a wide range of risk estimates have been reported that are based on retrospective …

[HTML][HTML] Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers

…, D Gallagher, O Johannsson, A Donaldson, J Barwell… - European urology, 2019 - Elsevier
Background Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate
cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-…

[HTML][HTML] Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators …

…, H Gregory, J Eason, C Houghton, J Barwell… - Breast Cancer …, 2011 - Springer
Introduction Previous studies have demonstrated that common breast cancer susceptibility
alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation …