10 Result(s)
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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
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
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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Article
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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Article
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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Article
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...
