• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5211-5217
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• 2015

Background: We earlier used PCR-dHPLC for mutation analysis of BRCA1 and BRCA2. In this article we report application of targeted resequencing of 30 genes involved in hereditary cancers. Materials and Methods: A total of 91 patient samples were analysed using a panel of 30 genes in the Illumina HiScan SQ system. CLCBio was used for mapping reads to the reference sequences as well as for quality-based variant detection. All the deleterious mutations were then reconfirmed using Sanger sequencing. Kaplan Meier analysis was conducted to assess the effect of deleterious mutations on disease free and overall survival. Results: Seventy four of the 91 samples had been run earlier using the PCR-dHPLC and no deleterious mutations had been detected while 17 samples were tested for the first time. A total of 24 deleterious mutations were detected, 11 in BRCA1, 4 in BRCA2, 5 in p53, one each in RAD50, RAD52, ATM and TP53BP1. Some 19 deleterious mutations were seen in patients who had been tested earlier with PCR-dHPLC [19/74] and 5/17 in the samples tested for the first time, Together with our earlier detected 21 deleterious mutations in BRCA1 and BRCA2, we now had 45 mutations in 44 patients. BRCA1c.68_69delAG;p.Glu23ValfsX16 mutation was the most common, seen in 10/44 patients. Kaplan Meier survival analysis did not show any difference in disease free and overall survival in the patients with and without deleterious mutations. Conclusions: The NGS platform is more sensitive and cost effective in detecting mutations in genes involved in hereditary breast and/or ovarian cancers.

• Asian Pacific Journal of Cancer Prevention
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• 제16권14호
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• pp.5619-5624
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• 2015

Pancreatic cancer is a fatal malignancies which is predominantly seen in men and at advanced age (40-85 years) and has an aggressive course. Its frequency is gradually increasing over the past years. It accounts for 2% of all cancers and 5% of cancer-related deaths. Pancreatic cancer takes the first place among asymptomatic cancers. Ninety percent of cases are adenocarcinomas. Ten percent of the patients have a familial disposition. The disease is very difficult to detect as it has no early signs and spreads rapidly to surrounding organs is one of the most deadly types of cancer. Pancreatic cancer may result from hereditary germline or somatic acquired mutations in cancer-related genes and mutations also cause cancer progression and metastasis.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5961-5964
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• 2013

Background: Breast cancer in Kazakhstan and its Kyzylorda oblast is the most prevalent cancer in women and features increasing trends of incidence. The aim of study was to reveal risk factors for breast cancer among women of Kyzylorda oblast of Kazakhstan. Materials and Methods: A hospital-based case-control study was conducted at Kyzylorda oblast Oncology Center, including 114 cases of breast cancer and 196 controls. Binary logistic regression analysis was performed. Results: Social and behavioral risk factors for breast cancer were evaluated, among which unfavorable living conditions, chronic stress, unilateral breastfeeding, breastfeeding less than 3 months and over 2 years, abortions, and hereditary predisposition were found to be related with increased breast cancer risk. Breastfeeding for 6-24 months was found to be protective. Conclusions: The findings may have significant impact on activity planning aimed towards breast cancer reduction among women in Kazakhstan.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.6049-6053
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• 2013

Background: Following research demonstrating an increased risk for meningiomas in the Jewish population of Shiraz (Iran) we conducted a cohort analysis of meningiomas among Jews originating in Iran and residing in Israel. Materials and Methods: We use the population-based registry data of the Israeli National Cancer Registry (INCR) for the main analysis. All benign meningioma cases diagnosed in Israel from January 2000 to the end of 2009 were included. Patients that were born in Iran, Iraq, Turkey, Bulgaria and Greece were used for the analysis, whereby we calculated adjusted incidence rates per 100,000 people and computed standardized incidence ratios (SIRs) comparing the Iranian-born to each of the three other groups. Results: Iranian-born Jews had statistically significant higher meningioma rates rates compared to other Jews originating in Balkan states: 1.46 fold compared to Turkish Jews and 1.86 fold compared to the Bulgaria-Greece group. There was a small increase in risk for the Iranian born group compared to those who were born in Iraq (1.06, not significant). Conclusions: Higher rates of meningiomas were seen in Jews originating in Iran that are living in Israel as compared to rates in neighboring countries of origin. These differences can be in part attributed to early life environmental exposures in Iran but probably in larger amount are due to genetic and hereditary factors in a closed community like the Iranian Jews. Some support for this conclusion was also found in other published research.

• International Journal of Stem Cells
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• 제17권3호
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• pp.253-269
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• 2024

Pancreas serves endocrine and exocrine functions in the body; thus, their pathology can cause a broad range of irreparable consequences. Endocrine functions include the production of hormones such as insulin and glucagon, while exocrine functions involve the secretion of digestive enzymes. Disruption of these functions can lead to conditions like diabetes mellitus and exocrine pancreatic insufficiency. Also, the symptoms and causality of pancreatic cancer very greatly depends on their origin: pancreatic ductal adenocarcinoma is one of the most fatal cancer; however, most of tumor derived from endocrine part of pancreas are benign. Pancreatitis, an inflammation of the pancreatic tissues, is caused by excessive alcohol consumption, the bile duct obstruction by gallstones, and the premature activation of digestive enzymes in the pancreas. Hereditary pancreatic diseases, such as maturity-onset diabetes of the young and hereditary pancreatitis, can be a candidate for disease modeling using human pluripotent stem cells (hPSCs), due to their strong genetic influence. hPSC-derived pancreatic differentiation has been established for cell replacement therapy for diabetic patients and is robustly used for disease modeling. The disease modeling platform that allows interactions between immune cells and pancreatic cells is necessary to perform in-depth investigation of disease pathogenesis.

• 한국콘텐츠학회논문지
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• 제18권2호
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• pp.47-56
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• 2018

본 연구는 국내 외의 종양유전간호 관련 연구를 분석하여 연구동향을 파악하고자 하였다. 종양유전간호 관련 주제로 학술지에 게재된 논문들의 초록에서 제시한 핵심어들을 중심으로 한 텍스트 네트워크 분석을 실시하였다. 핵심어이자 중심성이 높은 주제어로 Nurse, Cancer, Genetic, Patient, Knowledge, Care, Genetic Test 등이 확인되었으며, 시기별 연구동향을 확인한 결과, 2003년 이후 Information, Care, Knowledge 등의 주제어를 포함한 연구들이 증가하였다. 간호학의 메타 패러다임으로 주제어를 분류한 결과, 건강, 간호, 인간, 환경 순으로 중심성이 높게 나타났다. 건강 영역 중 건강 위험 범주에서 Genetics, Risk, 건강 증진 범주에서 Genetic Test, Prevention 등이 가장 높은 빈도로 나타났다. 본 연구를 통해 종양유전간호 연구의 동향을 파악할 수 있으며, 유전성 암 환자들을 위한 간호 중재에 주축이 되는 간호사의 역할 및 중재프로그램 개발의 방향 설정에 활용될 수 있다는 점에서 의미가 있다.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.55-58
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• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2177-2185
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• 2015

Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.

• Clinical Endoscopy
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• 제55권3호
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• pp.452-457
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• 2022

Colonic diffuse ganglioneuromatosis is an extremely rare disease in which multiple tumors derived from the ganglion cells, nerve fibers, and supporting cells are distributed in the colon. It is generally considered to be a benign neoplastic condition and is occasionally associated with rare hereditary conditions such as neurofibromatosis type I or multiple endocrine neoplasia type 2B. Here, we report a case of a patient in whom colon cancer developed 12 years after the initial diagnosis of colonic diffuse ganglioneuromatosis, which suggests a possible association between colonic diffuse ganglioneuromatosis and colorectal cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제16권9호
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• pp.4051-4055
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• 2015

The purpose of this study is to assess the effect of consanguinity on breast cancer incidence in Tunisia. We conducted a case-control study to evaluate the involvement of heterozygote and homozygote haplotypes of BRCA1 gene SNPs according to consanguinity among 40 cases of familial breast cancer, 46 cases with sporadic breast cancer and 34 healthy controls. We showed significant difference in consanguinity rate between breast cancer patients versus healthy controls P=0.001. Distribution of homozygous BRCA1 haplotypes among healthy women versus breast cancer patients was significantly different; p=0.02. Parental consanguinity seems to protect against breast cancer in the Tunisian population.