• What are the Different Types of Liver Cancer, and How do They Develop?

What are the Different Types of Liver Cancer, and How do They Develop?

A review article in the March issue of Gastroenterology discusses different hypotheses about the cells responsible for liver tumorigenesis. The article also reviews the different classes of liver tumors, based on the molecular features, and how these affect patient prognosis. Daniela Sia et al describe the distinct molecular and clinical features of hepatocellular

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  • How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

Researchers have developed a patient-derived cell line-based model to study how intratumor heterogeneity affects sensitivity of hepatocellular carcinoma (HCC) to different therapeutic agents, reported in the January issue of Gastroenterology. HCCs have a large amount of genetic heterogeneity within each tumor, making them difficult to treat. Multiple regions of tumors

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  • How Could Variants in TM6SF2 Affect Risk for NAFLD?

How Could Variants in TM6SF2 Affect Risk for NAFLD?

The human transmembrane 6 superfamily member 2 (TM6SF2) protein regulates cholesterol metabolism in mice, researchers report in the May issue of Gastroenterology. These findings provide insight into the how a variant of TM6SF2 (encoding the amino acid change E167K) reduces total cholesterol and low-density lipoprotein cholesterol (LDL-c) levels in humans, and

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  • Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

A genomic analysis of more than half a million people identified 13 individuals who appear to remain healthy despite carrying genetic mutations linked to severe childhood diseases. Although the biological reasons for this resilience are not yet understood, the study provides a first step toward identification of genetic variants that

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  • What Gene Mutations Cause Familial Colorectal Cancers?

What Gene Mutations Cause Familial Colorectal Cancers?

Mutations in the DNA repair gene, FAN1, cause some inherited forms of colorectal cancer (CRC), researchers report in the September issue of Gastroenterology. Identification of another gene associated with this hereditary cancer will facilitate management of patients with family histories of cancer. Germline mutations in EPCAM, APC, MUTYH, POLE, POLD1, GREM1,

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  • Genetic Analysis of Tumors Could Improve With Proper Controls

Genetic Analysis of Tumors Could Improve With Proper Controls

Up to two thirds of mutations identified in tumors also exist in matched, non-tumor tissues, researchers have found. It is therefore important for oncologists to identify the mutations that actually promote the progression of a patient’s tumor before selecting therapy. The finding, published in Science Translational Medicine on 15 April, comes

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Genetic Analysis of Icelandic Population Provides Disease Insights

Scientists in Iceland have performed an unprecedentated genetic analysis of an entire nation, associating previously undiscovered mutations with disorders such as liver disease and gallstones. In 4 articles published last week in Nature Genetics, researchers at DeCODE, an Icelandic genetics firm owned by Amgen, described sequencing the genomes of 2636

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  • A Genetic Cause of Chronic Intestinal Pseudo-obstruction

A Genetic Cause of Chronic Intestinal Pseudo-obstruction

An inherited form of chronic intestinal pseudo-obstruction (CIPO) is caused by mutations in a transcription factor that disrupt the structure and function of enteric innervation, researchers report in the April issue of Gastroenterology. Elena Bonora et al show that patients with CIPO carry mutations in RAD21 that disrupt the ability of its

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  • Leptin Mutation Causes Early-Onset Extreme Obesity

Leptin Mutation Causes Early-Onset Extreme Obesity

A mutation in the gene encoding the appetite-controlling hormone leptin (LEP) found to cause extreme obesity in a young child, researchers report. Martin Wabitsch et al describe insatiable appetite and early-onset extreme obesity in a 2-year old caused by a homozygous transversion in LEP.  The boy had a high serum

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New Programs Track Off-Label Use of Targeted Cancer Drugs

Two programs are underway to track off-label use of targeted cancer drugs and patient outcomes, as well as facilitate patient access to these agents. According to Nature News, more than 60% of US prescriptions for cancer drugs are for off-label use—often because patients have a tumor with a feature or

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