• Clinical and Experimental Pediatrics
• /
• v.59 no.1
• /
• pp.40-42
• /
• 2016

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

• Korean Institute of Interior Design Journal
• /
• no.16
• /
• pp.182-189
• /
• 1998

The existential space concept which introduced the sense of place that began emerging recently together with the change of space concept results from people's fundamental existential humane aspect as the subject of perceptive experience. The tendencies of enlargement layering and diversification which we can see in contemporary architecture imply the possibility that elements of urban image can be incorporated into interior design. This study utilizes Kevin Lynch's theory which tries to relate environment to existential space. In this study we re-analyze and apply Lynch's $\ulcorner$the Theory of Urban Image$\lrcorner$to interior space and using the conclusion from a case study examine the applicability of the theory about visual perception to interior design. This study considers a new method of analysis to perceive and grasp interior space through the understanding of the cognitive map and image concept.

• Journal of Digestive Cancer Research
• /
• v.11 no.3
• /
• pp.171-174
• /
• 2023

• Proceedings of the Korea Database Society Conference
• /
• 2002.10a
• /
• pp.354-399
• /
• 2002

PC사장의 수요감소: Merrill Lynch 수요예측: 2.5% 증가 - 3.0 감소 in 2002, 15%증가 10%증가 in 2003. Merrill Lynch 수요예측(2002년):US (1.9% D), Europe (8% D), Japan(8.3% D), Asia(4% U). (중략)

• BMB Reports
• /
• v.43 no.10
• /
• pp.693-697
• /
• 2010

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed with colorectal cancer and had subsequently undergone surgery. Five Lynch syndrome patients carried germline mutations in MLH1 or MSH2. Two of these were identified as known mutations in MLH1: deletion of exon 10 and a point mutation (V384D). The remaining three patients exhibited novel mutations: a duplication (937_942dupGAAGTT) in MLH1; deletion of exons 8, 9, and 10; and a point mutation in MLH1 (F396I) combined with multiple missense mutations in MSH2 (D295G, K808E, Q855P, and I884T). The findings underline the importance of efficient pre-screening of conspicuous cases.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.9
• /
• pp.3767-3771
• /
• 2015

Background: Lynch syndrome (LS) is an inherited predisposition to colorectal, endometrial (uterine) and other cancers. Although most cancers are not inherited, about 5 percent (%) of people who have colorectal or endometrial cancer have the Lynch syndrome. It involves the alteration of mismatch repair (MMR) genes; MLH1, MSH2, MSH6 or PMS2. In this study, we analyzed the expression of MMR proteins in colorectal cancer in a Malay cohort by immunohistochemistry. Materials and Methods: A total of 17 patients were selected fulfilling one of the Bethesda criteria: colorectal cancer diagnosed in a patient aged less than 50 years old, having synchronous and metachronous colorectal cancer or with a strong family history. Immunohistochemical staining was performed on paraffin embedded tumour tissue samples using four antibodies: MLH1, MSH2, MSH6 and PMS2. Results: Twelve out of 17 patients (70.6%) were noted to have a family history. A total of 41% (n=7) of the patients had abnormal immunohistochemical staining with one or more of the four antibodies. Loss of expression were noted in 13 tumour tissues with a negative staining score <4. Of 13 tumour tissues, four showed loss expression of MLH1. For PMS2, loss of expression were noted in five cases. Both MSH2 and MSH6 showed loss of expression in two tumour tissues respectively. Conclusions: Revised Bethesda criteria and immunohistochemical analysis constituted a convenient approach and is recommended to be a first-line screening for Lynch syndrome in Malay cohorts.

• Journal of Korean Philosophical Society
• /
• v.143
• /
• pp.27-46
• /
• 2017

This paper research an answer to the question what is the relation between intrinsic value of truth and substantiality of truth. The concept of substantiality can be variably defined, but I characterize it as being an opaque concept. Michael P. Lynch, who is one of the most influential pluralists about truth, accept both that truth is substantial and that truth is intrinsically valuable. This paper analyzes Lynch's argument for the intrinsic value of truth, and will show that his argument is independent of his theory which insists that truth is manifested plurally. Moreover I will discuss how Paul Horwich who is a deflationist denying substantiality of truth explains the intrinsic value of truth. And comparing these two views, I will elaborate the reason why intrinsic value of truth and its substantiality are logically independent each other. Finally, I will suggest a brief case which shows an implication included in the conclusion that plural manifestation of truth does not generally entails plurality of value of truth.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.9
• /
• pp.4259-4265
• /
• 2016

Background: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients. A Promega five-marker MSI testing panel and immunohistochemistry (IHC) were used as the gold standard in conjunction with MT1XT20. Materials and Methods: Colorectal patients with a positive history of familial cancers were selected by evaluating medical records. Based on Amsterdam II criteria for Lynch syndrome 20 families were short listed. DNA was extracted from formalin fixed paraffin embedded tumour and adjacent normal tissues resected from the index case in each family. Extracted DNA was subjected to MT1XT20 mononucleotide marker analysis and assessment with a commercially available five marker MSI testing kit (Promega, USA). IHC also was performed on tissue sections and the results were compared with PCR based data. Results: Eight (40%), seven (35%) and five (25%) cases were MSI positive using with the Promega kit, IHC and MT1XT20, respectively. Among the markers included in Promega kit, BAT26 marker showed instability in all 8 samples. NR24 and NR21 markers showed instability in 7 (87.5%), and BAT25 and MONO 27 in 6 (75%) and 5 (62.5%). Conclusions: Although MT1XT20 was earlier reported as a valid standalone marker for MSI testing in CRC patients, we could not verify this in our Iranian patients. Instead BAT26 among the markers included in Promega MSI testing kit showed instability in all 8 MSI-H CRC samples. Therefore, it seems BAT26 could act well as a single marker for MSI testing in Iranian CRC patients.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.2
• /
• pp.619-624
• /
• 2013

Background: Colorectal cancer (CRC) exists in a more common sporadic form and less common hereditary forms, associated with the Lynch syndrome, familial adenomatous polyposis (FAP) and other rare syndromes. Sporadic CRC is believed to arise as a result of close interaction between environmental factors, including dietary and lifestyle habits, and genetic predisposition factors. In contrast, hereditary forms such as those related to the Lynch syndrome result from inheritance of germline mutations of mismatch repair (MMR) genes. However, in certain cases, the influence of low penetrance alleles in familial colorectal cancer susceptibility is also undeniable. Aim: To investigate the genotype frequencies of MLH1 promoter polymorphism -93G>A and to determine whether it could play any role in modulating familial and sporadic CRC susceptibility risk. Methods: A case-control study comprising of 104 histopathologically confirmed CRC patients as cases (52 sporadic CRC and 52 Lynch syndrome patients) and 104 normal healthy individuals as controls was undertaken. DNA was extracted from peripheral blood and the polymorphism was genotyped employing PCR-RFLP methods. The genotypes were categorized into homozygous wild type, heterozygous and homozygous variants. The risk association between these polymorphisms and CRC susceptibility risk was calculated using binary logistic regression analysis and deriving odds ratios (ORs). Results: When risk association was investigated for all CRC patients as a single group, the heterozygous (G/A) genotype showed a significantly higher risk for CRC susceptibility with an OR of 2.273, (95%CI: 1.133-4.558 and p-value=0.021). When analyzed specifically for the 2 types of CRC, the heterozygous (G/A) genotype showed significantly higher risk for sporadic CRC susceptibility with and OR of 3.714, (95%CI: 1.416-9.740 and p-value=0.008). Despite high OR value was observed for Lynch syndrome (OR: 1.600, 95%CI: 0.715-3.581), the risk was not statistically significant (P=0.253). Conclusion: Our results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease.

• Journal of Genetic Medicine
• /
• v.13 no.1
• /
• pp.55-58
• /
• 2016

Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.