A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.

A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study. J Zhejiang Univ Sci B. 2019 Jan.;20(1):105-108 Authors: Sui QQ, Jiang W, Wu XD, Ling YH, Pan ZZ, Ding PR Abstract Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lynch et al., 2009), which can trigger a high frequency of replication errors in both microsatellite regions and repetitive sequences in the coding regions of various cancer-related genes. Immunohistochemistry (IHC) tests followed by genetic analysis of these mutations play a significant role in diagnosis, treatment determination, and therapeutic response prediction of LS (Lynch et al., 2009; Alex et al., 2017; Ryan et al., 2017). Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree. PMID: 30614234 [PubMed - in proce...
Source: J Zhejiang Univ Sci ... - Category: Science Authors: Tags: J Zhejiang Univ Sci B Source Type: research

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CONCLUSIONS In the natural sitting position, a reduction in LL was associated with TK, SVA and PT increased, and there were differences between men and women. The characteristics of spinopelvic alignment in healthy older adults should be considered when planning corrective spinal surgery. PMID: 31981456 [PubMed - in process]
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CONCLUSIONS Our results showed that sarcopenia was significantly and independently associated with cognitive decline and falls, but not associated with hospitalization, in the community-dwelling oldest old. PMID: 31980594 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
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Source: Colloids and Surfaces B: Biointerfaces - Category: Biochemistry Source Type: research
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Source: Journal of Industrial and Engineering Chemistry - Category: Chemistry Source Type: research
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Source: Journal of Industrial and Engineering Chemistry - Category: Chemistry Source Type: research
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New J. Chem., 2020, Accepted Manuscript DOI: 10.1039/C9NJ05860E, PaperFan Gao, Fei Wang, Xuan Nie, Ze Zhang, Guang Chen, Lei Xia, Long-Hai Wang, Chang-Hui Wang, Zong-Yao Hao, Wen-Jian Zhang, Chun-Yan Hong, Ye-Zi You Mitochondrial malfunction is considered to be a decisive signal of apoptosis. It would be a promising strategy to target mitochondria in cancer cells to generate reactive oxygen species (ROS) directly... The content of this RSS Feed (c) The Royal Society of Chemistry
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Source: Mutation Research Genetic Toxicology and Environmental Mutagenesis - Category: Genetics & Stem Cells Source Type: research
Authors: Nallamilli BRR, Hegde M Abstract Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA. Lynch synd...
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research
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