67 Result(s)
within
Richard S. Houlston
Biomedicine
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Article
Open AccessConstitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report
Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally cons...
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Article
Genome-wide association studies of cancer: current insights and future perspectives
The architecture of inherited genetic susceptibility to cancer is defined by a spectrum of predisposition alleles that have differing frequencies and impact.
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Article
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes
Christopher Amos and colleagues perform genome-wide association analysis for lung cancer using cohorts genotyped on the OncoArray and combing these with existing data. They identify 18 loci, 10 of which are ne...
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Article
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor
Clare Turnbull and colleagues report discovery of 19 new susceptibility loci for testicular germ cell tumor (TGCT) and provide evidence for a network of physical interactions between TGCT risk variants and can...
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Article
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors
Beatrice Melin, Richard Houlston, Melissa Bondy and colleagues report results of a large-scale genome-wide association study of glioma. They identify five new risk loci for glioblastoma and eight new risk loci...
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Article
Correction: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
Nat. Genet. 46, 736–741 (2014); published online 1 June 2014; corrected after print 23 January 2017 In the version of this article initially published, the name of author Florence Le Calvez-Kelm appeared incor...
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Article
Open AccessUndefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes
Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The gen...
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Article
Open AccessMendelian randomisation analysis strongly implicates adiposity with risk of develo** colorectal cancer
Observational studies have associated adiposity with an increased risk of colorectal cancer (CRC). However, such studies do not establish a causal relationship. To minimise bias from confounding we performed a...
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Article
Open AccessErratum: Polygenic susceptibility to testicular cancer: implications for personalised health care
Correction to: British Journal of Cancer (2015) 113, 1512–1518. doi:10.1038/bjc.2015.334; published online 13 October 2015 Updated online 26 May 2016: This article was originally published under a CC BY-NC-SA ...
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Article
Open AccessPolygenic susceptibility to testicular cancer: implications for personalised health care
The increasing incidence of testicular germ cell tumour (TGCT) combined with its strong heritable basis suggests that stratified screening for the early detection of TGCT may be clinically useful. We modelled ...
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Article
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
Richard Houlston, Maria Teresa Landi and colleagues report the identification of large-effect associations for squamous lung cancer with rare variants in BRCA2 and CHEK2.
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Article
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
Richard Houlston and colleagues report results of a genome-wide association study of chronic lymphocytic leukemia. They validate several new susceptibility loci for this disease, including variants near POT1, TER...
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Article
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
Richard Houlston and colleagues report a genome-wide association study of multiple myeloma and identify four loci associated with susceptibility to this malignancy.
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Article
Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Nat. Genet. 45, 136–144 (2013); published online 23 December 2012; corrected after print 8 May 2013 In the version of this article initially published, the name of author Estrella Guarino was incorrectly liste...
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Article
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
Richard Houlston, Kari Hemminki and colleagues report a meta-analysis of genome-wide association studies of multiple myeloma and identify a variant in the CCDN1 gene that influences risk for develo** a specific...
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Article
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Ian Tomlinson and colleagues report the identification of germline variants in POLE and POLD1 that are susceptibility alleles for colorectal cancer. POLE and POLD1 encode DNA polymerases that function in DNA repl...
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Chapter
Risk of Childhood Acute Lymphoblastic Leukemia: Identification of Inherited Susceptibility
Acute lymphoblastic leukemia (ALL) is the major paediatric cancer in developed countries. It has long been speculated that common genetic variation influences the development of this haematological malignancy,...
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Chapter
Inherited Susceptibility to CLL
Chronic lymphocytic leukaemia (CLL) is the most common lymphoid malignancy in Western countries, accounting for around a quarter of all leukaemias. Despite a strong familial basis to CLL, with risks in first-d...
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Article
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk
Nick Orr and colleagues report a genome-wide association study for male breast cancer. They identify a new susceptibility locus at RAD51B and examine association evidence for known female breast cancer loci in th...
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Article
Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma
The risk of glioma has consistently been shown to be increased twofold in relatives of patients with primary brain tumors (PBT). A recent genome-wide linkage study of glioma families provided evidence for a di...
