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 …
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 …
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
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 …
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
Improved sequencing technologies offer unprecedented opportunities for investigating the
role of rare genetic variation in common disease. However, there are considerable …
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 …
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) …
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 …
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 …
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-…
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 …
alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation …