9 Result(s)
within
Julian Barwell
Human Genetics
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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
L.A. Cannizzaro and K.H. Ramesh: Cancer genomics
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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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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
Inclusion of diverse populations in genomic research and health services: Genomix workshop report
Clinical genetic services and genomic research are rapidly develo** but, historically, those with the greatest need are the least to benefit from these advances. This encompasses low-income communities, incl...
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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 AccessIdentification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective
The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) ...
