15 Result(s)
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Cancer therapy with antibodies
The greatest challenge in cancer therapy is to eradicate cancer cells with minimal damage to normal cells. Targeted therapy has been developed to meet that challenge, showing a substantially increased therapeu...
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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, iden...
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Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands
Identification and quantification of low-frequency mutations remain challenging despite improvements in the baseline error rate of next-generation sequencing technologies. Here, we describe a method, termed Sa...
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Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer
Christine Iacobuzio-Donahue and colleagues report a detailed analysis of whole-genome sequencing data from primary and metastatic tumors in four patients with pancreatic cancer. They find that in each patient ...
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Familial and sporadic pancreatic cancer share the same molecular pathogenesis
Pancreatic ductal adenocarcinoma (PDAC) is nearly uniformly lethal, with a median overall survival in 2014 of only 6 months. The genetic progression of sporadic PDAC (SPC) is well established, with common soma...
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Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors
Chetan Bettegowda, Bert Vogelstein and colleagues identify somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors from individuals with and without neurofibromatosis. SUZ12 encodes a chromatin-mod...
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Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
Laura Wood, Kenneth Kinzler, Nickolas Papadopoulos, Aldo Scarpa and colleagues report exome sequencing of intrahepatic cholangiocarcinomas. They identify recurrent somatic mutations in BAP1, ARID1A and PBRM1.
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Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma
Victor Velculescu, Michael Hogarty and colleagues report whole-genome and exome sequences of neuroblastoma, the most common solid tumor in children. They identify recurrent somatic mutations in the chromatin-r...
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Sensitive digital quantification of DNA methylation in clinical samples
Gene-specific changes in DNA methylation are promising biomarkers, but sensitive quantitative detection of these epigenetic marks remains challenging. Li et al. adapt the so-called BEAMing technology to enable hi...
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The role of companion diagnostics in the development and use of mutation-targeted cancer therapies
Among all the known differences between cancer and normal cells, it is only the genetic differences that unequivocally distinguish the former from the latter. It is therefore not surprising that recent therape...
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CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases1. Hyperplasia of synoviocytes is found in both rheumatoid arthri...
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Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients
Hereditary non–polyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by the early onset of colorectal cancer and linked to germline defects in at least four mismatch repair genes....
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Monoallelic mutation analysis (MAMA) for identifying germline mutations
Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal alle...
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Genetic instability occurs in the majority of young patients with colorectal cancer
Replication errors (RER) associated with genetic instability have been found in cancers of several different types and particularly in the tumours of patients with hereditary non-polyposis colorectal cancer (H...
