细胞技术

Non-small cell lung cancer (NSCLC), a leading cause of cancer-related death for men and women worldwide, exhibits a highly variable clinical course. Death may occur within a few weeks of diagnosis at one extreme, whereas other cases have apparently benign outcomes for periods of up to 20 years with no ...

Globally, lung cancer is the leading cause of cancer death accounting for nearly one million deaths each year (1). In the United States, lung cancer accounts for approx 13% of all incident cases and 28% of all cancer deaths (2). It has been estimated that 90% of male lung cancer deaths and over 75% of female lung canc ...

Before the first clinical descriptions of the acquired immunodeficiency syndrome (AIDS), Kaposi’s sarcoma (KS) was a rare tumor among Western populations, occurring in only 0.02–0.06% per 100,000 people (1). By June and July of 1981, however, reports from California and New York described lar ...

Disease predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements, including deletions or duplications that are challenging, to detect and characterize using standard PCR-based mutation screening methods. Such rearran ...

The fast growing understanding of genetic pathways that mediate cancer etiology, biology, and personalized medicine leads to an increasing need for extensive and reliable mutation screening on a population or on a single patient basis. Here we describe s-RT-MELT, a novel technology that e ...

The interpretation of the numerous sequence variants of unknown biological and clinical significance (UV for “unclassified variant”) found in genetic screenings represents a major challenge in the molecular diagnosis of genetic disease, including cancer susceptibility. A fr ...

We present the routine diagnostic application of EMMA (Enhanced Mismatch Mutation Analysis�, Fluigent), a new, fast, reliable, and cost-effective method for mutation screening. This method is based on heteroduplex analysis by capillary electrophoresis and relies on the use of innov ...

Denaturing high performance liquid chromatography (DHPLC) facilitates automated mutation scanning of PCR products with the ability to detect nearly 100% of sequence variants including single nucleotide substitutions and small insertions or deletions. It has particular ap ...

Women with a family history of breast cancer have mutations in one of the breast cancer susceptibility genes, BRCA1 or BRCA2. Since the discovery of these two genes, around 100,000 women worldwide have undergone genetic testing. The decisions they make based on the results are usually life chang ...

We describe here a comprehensive and reliable assay to test the functional significance of variants of unknown clinical significance (VUS) identified in the human breast cancer susceptibility gene, BRCA2. The assay is based on the ability of human BRCA2 to complement the loss of endogenous ...

Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is primarily due to heterozygous germline mutations in one of the mismatch repair (MMR) genes. Mutation screening for MMR genes with various techniques revealed that the majority of mutations identified are small DNA var ...

Combined single-strand conformational polymorphism (SSCP) and heteroduplex (HD) analysis (SSCP–HD) take advantage of parallel mutation detection in single-strand and duplex fraction during the single capillary electrophoresis (CE) run. The high mutation detection rate of ...

The candidate gene approach is one of the most commonly used methods for identifying genes underlying disease traits. Advances in genomics have greatly contributed to the development of this approach in the past decade. More recently, with the explosion of genomic resources accessible v ...

The identification of novel cancer susceptibility syndromes and genes from very limited numbers of study individuals has become feasible through the use of high-throughput genotype microarrays. With such an approach, highly sensitive genome-wide computational methods are ne ...

Cancers are commonly characterized as having an abnormal number of chromosomes, termed aneuploidy, which arise due to genomic instability. There is still debate over whether aneuploidy is a driving force of the disease or a resulting phenotype; however, the presence of aneuploidy can be us ...

Genomic imbalances in locus copy-number are highly significant for the diagnosis and prognosis of cancer. Rapidly progressing DNA microarray technologies detect such pathogenic copy-number changes in the genome with high throughput, efficiency, and resolution. A variety of dif ...

Alterations in the genome that lead to changes in DNA sequence copy number are a characteristic of Glioblastomas (GBs). Microarray-based comparative genomic hybridization (array-CGH) is a high-throughput technology that allows the hybridization of genomic DNA onto convention ...

Epidemiological evidence from different studies has shown that genes harboring sequence variations may modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene ...

Recent studies have indicated that in ∼35% of all colorectal cancer (CRC) cases, the CRC was inherited. Although a number of high-risk familial variants have been identified, these mutations explain

Selection for genetic testing for pathogenic mutations in BRCA1 and BRCA2 is an important area of healthcare. While testing costs for mutational analysis are falling, costs of tests in North America remain in excess of $3,000. Most countries state that there should be at least a 10–20% likelihood of ...