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Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.
(NATURE RESEARCH, 2018-08-13)
Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 ...
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
(BMC, 2014-12-23)
INTRODUCTION: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus ...
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
(AMER MEDICAL ASSOC, 2017-06-20)
IMPORTANCE: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. OBJECTIVES: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer ...
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
(IMPACT JOURNALS LLC, 2017-05-30)
The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ...
Family history and risk of breast cancer: an analysis accounting for family structure.
(SPRINGER, 2017-08-01)
PURPOSE: Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take ...
Risk of Second Cancer in Hodgkin Lymphoma Survivors and Influence of Family History.
(AMER SOC CLINICAL ONCOLOGY, 2017-05-10)
Purpose Although advances in Hodgkin lymphoma (HL) treatment have led to improved disease-free survival, this has been accompanied by an increased risk of second cancers. We sought to quantify the second cancer risks and ...
Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients.
(NATURE PUBLISHING GROUP, 2018-01-01)
Robust establishment of survival in multiple myeloma (MM) and its relationship to recurrent genetic aberrations is required as outcomes are variable despite apparent similar staging. We assayed copy number alterations (CNA) ...
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
(NATURE PUBLISHING GROUP, 2018-02-01)
Chronic lymphocytic leukaemia (CLL) consists of two biologically and clinically distinct subtypes defined by the abundance of somatic hypermutation (SHM) affecting the Ig variable heavy-chain locus (IgHV). The molecular ...
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
(NATURE PORTFOLIO, 2016-07-13)
Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing ...
Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation.
(WILEY, 2018-08-15)
Limited epidemiological evidence suggests that the etiology of hormone receptor positive (HR+) breast cancer may differ by levels of histologic grade and proliferation. We pooled risk factor and pathology data on 5,905 HR+ ...