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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
(NATURE PORTFOLIO, 2018-07-01)
Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data from a custom high-density array of 46,939 ...
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
(F1000 Research Ltd, 2018-01-01)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
(SPRINGERNATURE, 2018-07-03)
BACKGROUND: Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these ...
Maternal breast cancer risk in relation to birthweight and gestation of her offspring.
(BMC, 2018-10-05)
BACKGROUND: Parity and age at first pregnancy are well-established risk factors for breast cancer, but the effects of other characteristics of pregnancies are uncertain and the literature is inconsistent. METHODS: In a ...
Prostate Cancer Germline Variations and Implications for Screening and Treatment.
(COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2018-09-04)
Prostate cancer (PCa) is a highly heritable disease, and rapid evolution of sequencing technologies has enabled marked progression of our understanding of its genetic inheritance. A complex polygenic model that involves ...
Capture Hi-C Library Generation and Analysis to Detect Chromatin Interactions.
(Wiley, 2018-07-06)
Chromosome conformation capture (3C), coupled with next-generation sequencing (Hi-C), provides a means for deciphering not only the principles underlying genome folding and architecture, but more broadly, the role 3D ...
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.
(OXFORD UNIV PRESS INC, 2018-10-09)
BACKGROUND: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only ...
Glioma-related seizures in relation to histopathological subtypes: a report from the glioma international case-control study.
(SPRINGER HEIDELBERG, 2018-06-01)
BACKGROUND: The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient ...
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial.
(NATURE PUBLISHING GROUP, 2018-04-30)
Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) and causing genomic instability. HR also repairs ...
Risk of second primary cancer following myeloid neoplasia and risk of myeloid neoplasia as second primary cancer: a nationwide, observational follow up study in Sweden.
(ELSEVIER SCI LTD, 2018-08-01)
BACKGROUND: Although advances in the treatment of myeloid neoplasms have led to improved patient survival, this improvement has been accompanied by an increased risk of second primary cancer (ie, the risk of another cancer ...