Search Results - "Gylfe, Alexandra E."
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Eleven candidate susceptibility genes for common familial colorectal cancer
Published in PLoS genetics (01-10-2013)“…Hereditary factors are presumed to play a role in one third of colorectal cancer (CRC) cases. However, in the majority of familial CRC cases the genetic basis…”
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Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
Published in International journal of cancer (01-08-2014)“…ARID1A has been identified as a novel tumor suppressor gene in ovarian cancer and subsequently in various other tumor types. ARID1A belongs to the ARID domain…”
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CTCF/cohesin-binding sites are frequently mutated in cancer
Published in Nature genetics (01-07-2015)“…Lauri Aaltonen, Jussi Taipale and colleagues report frequent mutation of CTCF- and cohesin-binding sites (CBSs) in multiple cancer types. They find that the…”
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Identification of Candidate Oncogenes in Human Colorectal Cancers With Microsatellite Instability
Published in Gastroenterology (New York, N.Y. 1943) (01-09-2013)“…Microsatellite instability can be found in approximately 15% of all colorectal cancers. To detect new oncogenes we sequenced the exomes of 25 colorectal tumors…”
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Somatic mutations and germline sequence variants in patients with familial colorectal cancer
Published in International journal of cancer (15-12-2010)“…It is estimated that up to 35% of colorectal cancers (CRC) can be explained by hereditary factors. However, genes predisposing to highly penetrant CRC…”
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients
Published in Scandinavian journal of gastroenterology (01-06-2013)“…Abstract Objective. Early-onset colorectal cancer (CRC), defined here as age of onset less than 40 years, develops frequently in genetically predisposed…”
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Systematic search for rare variants in Finnish early-onset colorectal cancer patients
Published in Cancer genetics (2015)“…The heritability of colorectal cancer (CRC) is incompletely understood, and the contribution of undiscovered rare variants may be important. In search of rare…”
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3′-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity
Published in Familial cancer (01-09-2015)“…Approximately 15 % of colorectal cancers exhibit instability of short nucleotide repeat regions, microsatellites. These tumors display a unique…”
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Abstract 3420: Integrative tumor profiling beyond panel sequencing
Published in Cancer research (Chicago, Ill.) (01-07-2019)“…Abstract Introduction: Targeted cancer therapies rely on the identification of biomarkers specific to the tumors. Next generation sequencing (NGS) based…”
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Comprehensive analysis of tumor NGS data to demonstrate pathways pointing to therapeutic targeting options
Published in Journal of clinical oncology (20-05-2017)“…Abstract only e23153 Background: Recent advancements in NGS technology have enabled precision medicine based on tumor-specific genomic alterations. However,…”
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Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer
Published in Cancer research (Chicago, Ill.) (01-08-2017)“…Approximately 15% of colorectal cancers exhibit microsatellite instability (MSI), which leads to accumulation of large numbers of small insertions and…”
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Tumor profiling from whole-genome and whole transcriptome sequencing to uncover gene fusions and structural variations in clinically relevant cancer genes
Published in Journal of clinical oncology (20-05-2017)“…Abstract only e23118 Background: Current targeted cancer therapies rely on the identification of clinically relevant somatic alterations in the tumor. Hotspot…”
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Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer
Published in EMBO molecular medicine (01-09-2018)“…Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal…”
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Abstract 5193: Novel candidate oncogenes with mutation hot spots in microsatellite unstable colorectal cancer
Published in Cancer research (Chicago, Ill.) (01-10-2014)“…Abstract Around 15% of colorectal cancers (CRCs) show microsatellite instability (MSI). MSI CRCs are prone to repeat mutations due to defective mismatch…”
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Abstract 2401: Identification of new target genes in microsatellite unstable colorectal cancer by exome sequencing
Published in Cancer research (Chicago, Ill.) (01-10-2014)“…Abstract Colorectal cancer (CRC) is the third most common cancer in Western countries. Approximately 15% of CRCs display microsatellite instability (MSI)…”
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Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer: e1003876
Published in PLoS genetics (01-10-2013)“…Hereditary factors are presumed to play a role in one third of colorectal cancer (CRC) cases. However, in the majority of familial CRC cases the genetic basis…”
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Abstract 3156: New candidate oncogenes discovered in microsatellite unstable colorectal cancer
Published in Cancer research (Chicago, Ill.) (15-04-2013)“…Abstract Around 15% of colorectal cancers (CRCs) show microsatellite instability (MSI). A characteristic high passenger mutation load has discouraged…”
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Characterization of the colorectal cancer–associated enhancer MYC-335 at 8q24: the role of rs67491583
Published in Cancer genetics (01-01-2012)“…Recent genome-wide association studies have identified multiple regions at 8q24 that confer susceptibility to many cancers. In our previous work, we showed…”
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