• Title/Summary/Keyword: Family history

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Screening of BRCA1/2 Mutations Using Direct Sequencing in Indonesian Familial Breast Cancer Cases

  • Anwar, Sumadi Lukman;Haryono, Samuel J;Aryandono, Teguh;Datasena, I Gusti Bagus
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1987-1991
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    • 2016
  • Breast cancer has emerged as the most prevalent cancer among women worldwide, including in Indonesia. The contribution of genes associated with high-risk breast-ovarian cancers, BRCA1 and BRCA2, in the Indonesian population is relatively unknown. We have characterized family history of patients with moderate- to high-risk of breast cancer predisposition in 26 unrelated cases from Indonesia for BRCA1/2 mutation analyses using direct sequencing. Known deleterious mutations were not found in either BRCA1 or BRCA2 genes. Seven variants in BRCA2 were documented in 10 of 26 patients (38%). All variants were categorized as unclassified (VUSs). Two synonymous variants, c.3623A>G and c.4035T>C, were found in 5 patients. One variant, c4600T>C, was found in a 38 year old woman with a family history of breast cancer. We have found 4 novel variants in BRCA2 gene including c.6718C>G, c.3281A>G, c.10176C>G, and c4490T>C in 4 unrelated patients, all of them having a positive family history of breast cancer. In accordance to other studies in Asian population, our study showed more frequent variants in BRCA2 compared to BRCA1. Further studies involving larger numbers of hereditary breast cancer patients are required to reveal contribution of BRCA1/2 mutations and/or other predisposing genes among familial breast cancer patients in Indonesia.

Gastric Precancerous Lesions in First Degree Relatives of Patients with Known Gastric Cancer: a Cross-Sectional Prospective Study in Guilan Province, North of Iran

  • Mansour-Ghanaei, Fariborz;Joukar, Farahnaz;Baghaei, Seyed Mohammad;Yousefi-Mashhoor, Mahmood;Naghipour, Mohammad Reza;Sanaei, Omid;Naghdipour, Misa;Shafighnia, Shora;Atrkar-Roushan, Zahra
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.1779-1782
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    • 2012
  • Background & Objectives: In patients with gastric cancer, the most frequently reported family history of cancer also involves the stomach. The aim of this study was to assess the presence of gastric precancerous lesions in first-degree relatives of patients with gastric cancer and to compare the obtained results with those of individuals with no such family history. Methods: Between 2007 and 2009, 503 consecutive persons more than 30 years old were enrolled in the study covering siblings, parents or children of patients with confirmed adenocarcinoma of stomach. The control group was made up of 592 patients who were synchronously undergoing upper gastrointestinal endoscopy for evaluation of dyspepsia without gastric cancer or any family history. All subjects were endoscopically examined. Results: The overall prevalence of Helicobacter pylori was 77.7% in the cancer relatives and in 75.7% in the control group. Chronic gastritis was found in 90.4% vs. 81.1% (P<0.001). Regarding histological findings, 37(7.4%) of the study group had atrophy vs. 12(1.7%) in the control group (P<0.001), while no difference was observed for intestinal metaplasia (20.3%vs. 21.6%, P=0.58). Dysplasia were shown in 4% of cancer relatives but only 0.4% of the control group (P<0.001). There was no gender specificity. Conclusions: Findings of our study point to great importance of screening in relatives of gastric cancer patients in Iran.

Estimation of Joint Risks for Developing Uterine Cervix Cancer in Korea (한국인 자궁경부암의 복합위험도 추정)

  • Yoon, Ha-Chung;Shin, Ae-Sun;Park, Sue-Kyung;Jang, Myung-Jin;Yoo, Keun-Young
    • Journal of Preventive Medicine and Public Health
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    • v.35 no.3
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    • pp.263-268
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    • 2002
  • Objective : This study was aiming at estimating the joint effects of various risk factors associated with uterine cervix cancer in Korea. Methods : Data obtained from a case-control study were analyzed with a multiplicative model. Results : After adjustment for age and husband's educational attainments, the family history of cervical cancer (OR=2.1, 95% CI=1.2-3.9), unstable marital status due to separation, by death or divorce, etc. (OR=2.8, 95% CI=1.7-4.6), and a large number of deliveries ($\geq$3 vs. nulliparous OR=6.5, 55% CI=1.4-29.0) increased the risk of uterine cervix cancer, Conversely, first sexual intercourse at an older age ($\geq$25 years vs. <19 years OR=0.4, 95% CI=0.2-0.6) and husband's circumcision (OR=0.7, 95% CI=0.5-1.0) decreased the risk. In the multiplicative model, the highest joint risk (OR=39.2, 95% CI 5.9-258.9) was observed in women with a family history of uterine cervical cancer, an unstable marital status, where the ex-husband was not circumcised, with 3 or more delivery experiences, and having her first sexual intercourse when younger than 19 years of age. However, women without a family history of uterine cervix cancer, married to a circumcised husband, having had her first sexual intercourse at 25 years or older, and nulliparous, showed the lowest joint effect (OR=0.3, 95% CI=0.1-0.5). Conclusion : As carcinogenesis is a complex action involving various factors, we consider a joint effects approach to be appropriate in an epidemiological study on risk factors for uterine cervix neoplasms cervix neoplasm.

Clinicopathological Features and Survival of Patients with Gastric Cancer with a Family History: a Large Analysis of 2,736 Patients with Gastric Cancer

  • Jeong, Oh;Jung, Mi Ran;Park, Young Kyu;Ryu, Seong Yeob
    • Journal of Gastric Cancer
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    • v.17 no.2
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    • pp.162-172
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    • 2017
  • Purpose: Previous studies indicated conflicting results regarding the prognosis of gastric cancer with a family history (FHX). This study aimed to determine the clinicopathological features and survival of patients with gastric cancer with a FHX. Materials and Methods: We reviewed 2,736 patients with gastric cancer who underwent surgery between 2003 and 2009. The prognostic value of a FHX was determined in the multivariate model after adjusting for variables in the Asian and internationally validated prognostic models. Results: Of the patients, 413 (15.1%) had a FHX of gastric cancer. The patients with a FHX were younger (58.1 vs. 60.4 years; P<0.001) than the patients without a FHX. There were no significant differences in the histopathological characteristics between the 2 groups. A FHX was associated with a better overall survival (OS) rate only in the stage I group (5-year survival rate, 95% vs. 92%; P=0.006). However, the disease-specific survival (DSS) rate was not significantly different between the 2 groups in all stages. The multivariate model adjusted for the variables in the Asian and internationally validated prognostic models revealed that FHX has no significant prognostic value for OS and DSS. Conclusions: The clinicopathological features and survival of the patients with gastric cancer with a FHX did not significantly differ from those of the patients without a FHX.

Analysis of Family History of Visual Acuity (시력의 가족력분석)

  • Pak, Yun-Suk;Park, Su-Jin;Park, Sang Shin;Paek, Domyung;Lee, Eun-Hee
    • Journal of Korean Ophthalmic Optics Society
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    • v.13 no.3
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    • pp.89-94
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    • 2008
  • Purpose: To investigate the genetic association of visual acuity(VA) between young children, schoolchildren, juveniles, and their parents. Methods: 208(4 to 18 yrs) subjects who are belongs to young children, schoolchildren and juveniles and 340 their parents were assessed. Corrected and uncorrected visual acuity in each eye were measured using Han's test chart(5m). Results: There was no correlation with father's VA on under 6years but mother's VA tend to effect on male children. In case of elementary school students, their VA shows strong correlations with their parents VA; VA uner 0.7 group shows both parents VA was under 0.7 and VA over 0.7 group tend to shows their parents VA was over 0.7. Moreover, in juvenile, there was strong correlation between mother's VA and male children's VA. Conclusion: Our study showed that the family history, especially mother's visual acuity, had more effect on the problem of their children's visual acuity.

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Factors related to the Performance of Mammography Screening among Women with a Family History of Breast Cancer in Korea

  • Oh, Jin-A;Kim, Tae-Hyun;Park, Young-Ok
    • Women's Health Nursing
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    • v.17 no.5
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    • pp.439-446
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    • 2011
  • Purpose: Early diagnosis is the primary method aimed at controlling breast cancer. The purpose of this study was to analyze some factors affecting the performance of mammography screening among women with a family history of breast cancer in Korea. Methods: This study applied a descriptive design method through structured self-report questionnaires. The Care Seeking Behavior Theory provided a theoretical framework for the study. Factors measured in this study represent demographic, clinical, and psychosocial variables including anxiety, barriers, utility, habits, perception, and facilitators. A total of 212 participants, of at least 20 years old, were sampled from April 8, 2010 to March 31, 2011. The data was analyzed by logistic regression method using the Statistical Package for the Social Science 18.0 software. Results: Of the 212 participants, 122 women (57.5%) went through mammography screening. The results of the analysis showed that (a) age (Odds Ratio [OR] =1.10, p<.001), (b) facilitating influences (OR=1.83, p=.008), (c) perception of mammography importance (OR=1.92, p=.011), (d) barriers to mammography (OR=0.60, p=.031), and (e) utility of mammography (OR=2.01, p=.050) significantly affect mammography screening. Conclusion: The results underscore the impact that psychosocial variables in obtaining mammography have on adherence to screening. Women with a family history of breast cancer should be given accurate information and recommendation about mammography by healthcare provider and a regular source of healthcare.

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

  • Han, Kyoung Hee;Park, Jong Eun;Ki, Chang-Seok
    • Clinical and Experimental Pediatrics
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    • v.62 no.5
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    • pp.193-197
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    • 2019
  • Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (${\alpha}3$, ${\alpha}4$, and ${\alpha}5$). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen ${\alpha}5$ chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.

An Aspect of Medical Life and Yakro in Joseon in the 19th Century Based on the Records of Sin Dae-woo's Family, Seo Yugu, and Lee Kyugyung (19세기 조선 의약 풍경과 '약로(藥露)' - 신대우 가계 기록물과 서유구, 이규경의 저술을 중심으로)

  • JEON Jong-wook
    • The Journal of Korean Medical History
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    • v.35 no.1
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    • pp.135-147
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    • 2022
  • Sin Dae-woo was a scholar representing the Ganghwa School in the late Joseon Dynasty. He was Jeong Je-du's grandson-in-law and also in charge of organizing Jeong Je-du's collection of writings. His three sons had a particularly close relationship with their father, so even when they published a collection of writings after his father's death, the names of the three were combined and marked as Jin-jak-shin. The records they left include Seokcheon Il-seung, who described the history of the family along with the collection of writings, Seongdo Il-rok, a diary of the time of Seongcheon Busa, and many letters exchanged over time. These records draw attention as they contain records of medical life, such as eye diseases that the family suffered, infectious diseases that caused many casualties, and Yakro (distilled herbal essence) that showed records of being used for treatment at the time. In this paper: 1) We examine the medicines, prescriptions, acupuncture, and medication used to treat eye diseases. 2) We carefully examine the epidemic, the responses of the parties to it, and the attitudes of those who stood at the boundary between death and life. 3) We look for clues to the use of Western-origin drugs called Yakro. Intellectuals of the time looked deeper into Lee Kyugyung's book and Seo Yu-gu's book on how they were reflected in Joseon's medical life. In conclusion, in the 18th and 9th centuries, we see that the influential families of the Ganghwa school freely brought in famous acupuncturists, used prescriptions that were included in medical books or not, and used Yakro from western origin that were not traditional methods of Joseon. Thus, we reveal that doctors of the Joseon had the capacity to pursue their medical life more actively and had open-minded exchanges than our existing perceptions.

3차 적률(Moment)의 선형적 성질

  • 동경화
    • Journal for History of Mathematics
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    • v.9 no.2
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    • pp.15-21
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    • 1996
  • 적률법(method of moment)이란 변수 X의 멱승에대한 기대치를 이용하여 분포의 성질을 알아보는 방법이다. 여기서 적률법이 이용되어진 역사적 배경을 소개하고, 3차 적률들의 선형적 성질을 비교하였다. 먼저, Kagan이 입증한 표본평균에 관한 3차 표본적률의 선형적 성질과 Bayesian 경우에 3차 사후적률(posterior moment)과 사후평균(posterior)의 선형성을 소개하였다. 그리고, 자연지수족(natural exponential family)아래서도 표본평균에 관한 3차 표본적률의 선형성을 알아보기 위해 단순함수(simple function)의 형태로 유도하였으며, 정규분포인 경우에 적용시켜 보았다.

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A Study on the Ideal Pattern of Family Ritual and the Spatial Use of Yangban Houses - focused on Gwanrye and Honrye - (관(冠).혼례(婚禮)를 중심으로 본 조선시대(朝鮮時代) 반가(班家)에서의 행예규범(行禮規範)과 공간사용(空間使用))

  • Kim, Ki-Joo;Kim, Sung-Woo
    • Journal of architectural history
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    • v.3 no.2 s.6
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    • pp.47-66
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    • 1994
  • Chosun dynasty had accepted the Confucianism as a means of governing whole society and in its practical aspect ${\ulcorner}$Garye${\lrcorner}$ and the ceremonies of family ritual regarded as important. As a result, after mid-Chosun dynasty family ritual was begun to popularized on a national scale, and the socio-culture system which was interrelated with it changed into confucian ones. These fill-scaled change, on the other hand, resulted into the change of spatial use and plan type of yangban houses. In this aspect, this study intends to clarify the influence of family ritual on spatial use of yangban houses through the comparison between ideal pattern and behavioral one of family ritual. And this study made Gwanhonrye except Sangjerye an object because these two ceremonies were peformed in sucession in those day's behavior. The research setting is the Korean traditional society prior to modernization. The collected materials are based on ethnographic information as well as personal documents, public records, field works and the books on family ritual. The methodology for the present study is primarily based on the comparison study between available documents and field work. Especially, as the books on family ritual include some explanatory diagrams of the ideal pattern, these diagrams are compared with another ones made by the author of the behavioral pattern. The major findings are as follows. Firstly, in the aspect of Gwanhonrye's process, the ideal pattern is similar to the behavioral one. But even the essential course of the ideal pattern of Honrye is 'chinyoung', it has never been accepcted in Chosun dynasty on account of 'seoryubuga'. Secondly, even though the names of the performing space of family ritual are different each pattern, the methods of spatial use in processing these two ceremonies are similar. In other words, according to the books on family ritual the major performing spaces of Gwanhonrye are 'chungsa' and 'jungchim', but in practical process of both ceremonies 'sarangchae' and 'anche' are used. Lastly, as family ritual like Gwanrye and Honrye had been practiced at yangban houses after mid-Chosun dynasty as mentioned above, the spatial arrangement had to be changed to a certain extent.

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