• Asian Pacific Journal of Cancer Prevention
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• v.16 no.13
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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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• v.16 no.14
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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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• v.14 no.10
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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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• v.14 no.10
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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.

• The Journal of the Korea Contents Association
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• v.18 no.2
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• pp.47-56
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• 2018

The aim of this study is investigate the research trends by analyzing the researches related to Korean and international genetics in oncology nursing. We conducted a text network analysis focusing on the key words presented in the abstracts of papers published in journals related to genetics in oncology nursing. Nurse, Cancer, Genetic, Patient, Knowledge, Care, and Genetic Test were identified as keywords and centralized keywords. As a result of studying research trends over time, researches including keywords such as information, care, and knowledge have increased since the completion of the Human Genome Project in 2003. Key words classified through the meta paradigm of nursing were health, nursing, human, environment order. This study is meaningful in that it can be used to identify trends in tumor genetic nursing research and to set the direction of development of nursing intervention for hereditary cancer patients.

• Journal of Genetic Medicine
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• v.13 no.1
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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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• v.16 no.6
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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.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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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.

• Tuberculosis and Respiratory Diseases
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• v.44 no.4
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• pp.914-921
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• 1997

Hereditary hemorrhagic telangiectasia(Osler-Rendu-Weber Syndrome) is characterized by telangiectasia of the skin and mucous membranes and intermittent bleeding from vascular abnormalities. About 20% of patients with this syndrome have pulmonary arteriovenous fistulas. Pulmonary arteriovenous fistula is uncommon malformation which has an abnormal connection between the pulmonary capillary bed, in which venous blood in the pulmonary artery is shunted through the fistula into the pulmonary vein without exposure to alveolar oxygen and result in unoxygenated, desaturated systemic arterial blood, polycythemia, cyanosis and clubbing. Death often results from cerebral abscess and rupture of the malformation with massive hemorrhage. Therapeutic intervention is recommended for all symptomatic patients because of the risk of those serious complications. Treatment options include surgery and transcatheter obliteration with steel coils or detachable balloons. Therapeutic embolization has the advantages that multiple bilateral pulmonary arteriovenous fistulas can be occluded and also that the procedure can be repeated if necessary. Recently we experienced a case of the multiple bilateral pulmonary arteriovenous fistulas associated with telangiectatic change of hepatic artery and multiple angiodysplasia on the gastric mucosa in 41 years old female patient who had mild dyspnea of exertion(NYHA class II). clubbing finger, severe iron deficiency anemia. She was treated with embolization technique using steel coils and iron replacement. After the therapeutic embolization. significant improvement of dyspnea of exertion with disappearance of multiple pulmonary nodule on follow-up simple chest x-ray was noted. During the subsequent six months follow-up period, she had the improvement of symptoms and iron deficiency anemia.

• Biomolecules & Therapeutics
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• v.23 no.1
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• pp.26-30
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• 2015

Wnt/${\beta}$-catenin signaling pathway was mutated in about 90% of the sporadic and hereditary colorectal cancers. The abnormally activated ${\beta}$-catenin increases the cancer cell proliferation, differentiation and metastasis through increasing the expression of its oncogenic target genes. In this study, we identified an inhibitor of ${\beta}$-catenin dependent Wnt pathway from rhizomes of Atractylodes macrocephala Koidzumi (Compositae). The active compound was purified by activity-guided purification and the structure was identified as 2,8-dimethyl-6-hydroxy-2-(4-methyl-3-pentenyl)-2H-chromene (atractylochromene, AC). AC suppressed b-catenin/Tcell factor transcriptional activity of HEK-293 reporter cells when they were stimulated by Wnt3a or inhibitor of glycogen synthase kinase-$3{\beta}$. AC down-regulated the nuclear level of ${\beta}$-catenin through the suppression of galectin-3 mediated nuclear translocation of ${\beta}$-catenin in SW-480 colon cancer cells. Furthermore, AC inhibits proliferation of colon cancer cell. Taken together, AC from A. macrocephala might be a potential chemotherapeutic agent for the prevention and treatment of human colon cancer.