14 Result(s)
within
Julian Barwell
Cancer Research
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Article
The management of families affected by hereditary non-polyposis colorectal cancer (HNPCC)
This study assessed current practice and methods for improvement in the management of families with hereditary non-polyposis colorectal cancer (HNPCC). HNPCC families registered at five London Genetics Centres...
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Article
Germline mutations in RAD51D confer susceptibility to ovarian cancer
Nazneen Rahman and colleagues show that germline inactivating mutations in RAD51D confer susceptibility to ovarian cancer. They further show that RAD51D-deficient cells are sensitive to PARP inhibition, suggestin...
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Article
Open AccessCommon breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how thes...
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Article
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations ...
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Article
Open AccessThe 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 the UK in pa...
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Article
Open AccessAssociations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are dif...
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Open AccessAn original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be cause...
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Supporting families with Cancer: A patient centred survivorship model of care
In 2011, the Leicestershire Clinical Genetics Department in collaboration with Macmillan Cancer Support initiated a project called Supporting Families with Cancer (SFWC). The project aimed to raise awareness ...
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Article
Open AccessBaseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study soug...
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Open AccessProstate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition...
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Open AccessErratum: Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Correction to: British Journal of Cancer (2018) 118, 266–276; doi:10.1038/bjc.2017.429; published online 04 January 2018 The authors would like to acknowledge the following information for this manuscript: Chr...
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Open AccessMendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown.
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Article
Open AccessThe FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, whic...
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Open AccessEvaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the “real world” m...
