• Asian Pacific Journal of Cancer Prevention
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• v.14 no.6
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• pp.3403-3409
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• 2013

Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.

• International Journal of Industrial Entomology and Biomaterials
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• v.11 no.1
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• pp.49-55
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• 2005

Two BC1 group, c108 $\times$ (p50 $\times$ c108) and p50 $\times$ (p50 $\times$ c108), one group of F$_{2}$ progeny, (p50 $\times$ c108) F$_{2}$ ,and 3 SSR markers, F10539, FlO626 and FlO618 were used to test the hereditary properties of SSR markers in silkworm. FI0539, FlO626 were proved to be linkage, and FlO618 was proved to be independent to those two markers. According to Mendel's law, the recombinant value between F10539, FlO626 was calculated in all of these groups, and they were 8.55$\%$ (c108BC1), 8.02$\%$ (p50BC1) and 7.81 $\%$ (F$_{2}$) respectively. There was dominant difference among the crossing-over value using paired-samples tests by SPSS 10.0 software. This research proved that SSR markers were co-dominant in B. mori too, and F 2 progeny could be used to construct SSR linkage map although B. mori lacked of crossing over in females.

• Journal of Chest Surgery
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• v.46 no.2
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• pp.156-158
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• 2013

Thoracic extramedullary hematopoiesis (EMH) is a rare disease entity that is usually associated with hematologic disorders, such as myelodysplastic or hemolytic disease. Because thoracic EMH is usually encountered as a mass during radiologic examinations, it should be differentiated from posterior mediastinal neurogenic tumors. Here, the authors report a case of EMH associated with hereditary spherocytosis. The patient underwent a complete excision by thoracoscopic surgery to differentiate it from other mediastinal tumors.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.6
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• Journal of Yeungnam Medical Science
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• v.29 no.1
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• pp.45-47
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• 2012

Osteochondroma is a common bone tumor but a rare tumor in the rib. It is often asymptomatic and observed incidentally. This is a case report of a 49-year-old woman with an osteochondroma mimicking a mediastinal mass in hereditary multiple exostoses. The chest X-ray and computed tomography (CT) scans revealed the bony density feature of the mass. Surgical excision confirmed that the lesion was an osteochondroma.

• Asian Oncology Nursing
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• v.11 no.2
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• pp.147-154
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• 2011

Purpose: This study was performed to evaluate Korean nurses' knowledge about hereditary colorectal cancer (HCRC). Methods: A modified 15-item HCRC knowledge questionnaire was developed based on previous research. One hundred and forty-eight nurses have completed the questionnaire from February to April, 2011. Results: The average score of nurses' knowledge was $11.25{\pm}1.54$. Ninety-seven percent of nurses knew about colonoscopy check up schedule and family pedigree. However, only 20% of nurses knew about the rate of passing on mutation genes to offspring and risk of developing CRC among carriers. Only 13.5% of nurses had previous genetic education experiences. Working in oncology units, taking care of CRC patients, and participating in genetic education were not associated with nurses' HCRC knowledge. Conclusion: Various factors influence nurses' knowledge about HCRC. Repeated study with larger national sample of nurses is recommended to identify the factors affecting nurses' knowledge level in order to develop efficient genetic education programs for HCRC patients and their families by nurses.

• Journal of Yeungnam Medical Science
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• v.16 no.1
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• pp.114-118
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• 1999

Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy. we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.

• Transactions of the Korean Society of Mechanical Engineers
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• v.16 no.8
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• pp.1429-1437
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• 1992

A new finite element formulation based on the relaxation type hereditary integral is presented for a time-domain analysis of isotropic, linear viscoelastic problems. The semi-discrete variational approximation and elastic-viscoelastic correspondence principle are used in the theoretical development of the proposed method. In a time-stepping procedure of final, linear algebraic system equations, only a small additional computation for past history is required since the equivalent stiffness matrix is constant. The viscoelasticity matrices are derived and the stress computation algorithm is given in matrix form. The effect of time increment and Gauss point numbers on the numerical accuracy is examined. Two dimensional numerical examples of plane strain and plane stress are solved and compared with the analytical solutions to demonstrate the versatility and accuracy of the present method.

• Advances in aircraft and spacecraft science
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• v.7 no.3
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• pp.215-228
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• 2020

As is shown in the paper, the Koltunov-Rzhanitsyn singular kernel of heredity (when constructing mathematical models of the dynamics problem of the hereditary theory of viscoelasticity) adequately describes real mechanical processes, best approximates experimental data for a long period of time. A mathematical model of the problem of the flutter of viscoelastic plates moving in a gas with a high supersonic velocity is given. Using the Bubnov-Galerkin method, discrete models of the problem of the flatter of viscoelastic plates flowed over by supersonic gas flow are obtained. A numerical method is developed to solve nonlinear integro-differential equations (IDE) for the problem of the hereditary theory of viscoelasticity with weakly singular kernels. A general computational algorithm and a system of application programs have been developed, which allow one to investigate the nonlinear dynamic problems of the hereditary theory of viscoelasticity with weakly singular kernels. On the basis of the proposed numerical method and algorithm, nonlinear problems of the flutter of viscoelastic plates flowed over in a gas flow at an arbitrary angle are investigated. In a wide range of changes in various parameters of the plate, the critical velocity of the flutter is determined. It is shown that the singularity parameter α affects not only the oscillations of viscoelastic systems, but the critical velocity of the flutter as well.

• Journal of Electrodiagnosis and Neuromuscular Diseases
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• v.20 no.2
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• pp.148-152
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• 2018

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.