• Title/Summary/Keyword: Consanguinity

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Low Level of Consanguinity in Moroccan Families at High Risk of Breast Cancer

  • Elalaoui, Siham Chafai;Jaouad, Imane Cherkaoui;Laarabi, Fatima Zahra;Elgueddari, Brahim El Khalil;Benjaafar, Noureddine;Sefiani, Abdelaziz
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.2
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    • pp.723-726
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    • 2013
  • Background: Breast cancer is worldwide the most common cancer in women and is a major public health problem. Genes with high or low penetrance are now clearly implicated in the onset of breast cancer, mostly the BRCA genes. All women in families at high risk of breast cancer do not develop tumours, even when they carry the familial mutation, suggesting the existence of genetic and environmental protective factors. Several studies have shown that consanguinity is linked to a decreased or an increased risk of breast cancer, but to the best of our knowledge, there is no study concerning the association between consanguinity and the occurrence of tumours in women with high risk of breast cancer. The objective of this study was to examine whether parental consanguinity in families with genetic predisposition to breast cancer affect the risk of siblings for having this cancer. Materials and Methods: Over a six-year period, 72 different patients with a histological diagnosis of breast or ovarian cancer from 42 families were recruited for genetic counselling to the Department of Medical Genetics, Rabat. Consanguinity rate was determined in cases and compared to the consanguinity rate in the Moroccan general population. Results: Consanguinity rates were 9.72% in patients and 15.3% in controls, but the difference was statistically not significant (p>0.001) and the mean coefficient of consanguinity was lower in breast cancer patients (0.0034) than in controls (0.0065). Conclusions: Despite the relatively small sample size of the current study, our results suggest that parental consanguinity in Moroccan women might not be associated with an altered risk of breast cancer. Large scale studies should be carried out to confirm our results and to develop public health programs.

Consanguinity Protecting Effect Against Breast Cancer among Tunisian Women: Analysis of BRCA1 Haplotypes

  • Medimegh, Imen;Troudi, Wafa;Omrane, Ines;Ayari, Hajer;Uhrhummer, Nancy;Majoul, Hamdi;Benayed, Farhat;Mezlini, Amel;Bignon, Yves-Jean;Sibille, Catherine;Elgaaied, Amel Benammar
    • 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.

Comparison of Family Concept between Young and Middle-Aged Adults (청년과 중년의 가족 개념 비교분석)

  • 이영숙;박경란
    • Journal of the Korean Home Economics Association
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    • v.40 no.10
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    • pp.217-230
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    • 2002
  • This article explored the perceptions of ‘family’and the factors related to respondents' definitions of a family. The data were collected from two types of people: one was 472 university students and high school students' parents who were asked whether or not each of 22 scenarios represented a‘family’, and the other was 40 young and middle-aged adults who were asked,“what is a family member?”. Results showed that (1) the overwhelming majority of respondents considered a married couple without a child(scenario #5) as a family and the least respondents agreed a divorced couple(scenario #18) as a family, (2) the majority perceived consanguinity, co-residence, parental status, and marital status to be important in the definition of a family, (3) middle-aged adults were more likely than young generation to agree that consanguinity and paternal relations were important in determining what a family member is.

The Acquisition of National Identity: A Comparison of In-country and Overseas(Chinese, Russia and Japan Residents) Korean Adolescents (청소년의 민족정체감 조사 비교 - 한국, 중국, 소련, 일본 거주 청소년을 중심으로 -)

  • Yi, Soon Hyung
    • Korean Journal of Child Studies
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    • v.15 no.1
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    • pp.55-69
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    • 1994
  • The purpose of this study was to investigate methodological and theoretical problems in measuring the acquisition of national identity of in-country and over-seas Korean adolescents. The subjects consisted of 574 incountry and overseas (Chinese, Russia and Japan) Korean adolescents (total 509), 15 to 25 years of age. Data were collected with the use of a questionaire, the Scale of National Identity. The results were that (1) the concept of national identity was organized on two dimensions (cognitive vs. sociocultural). The former consisted of 6 cognitive characteristics (uniqueness, sameness, continuity, acceptability, respectability and royalty). The sociocultural dimension consisted of the cognition of 7 sociocultural characteristics (history, norm, fraternity, symbol, consanguinity, Korean language and nationality). Except for consanguinity, there was a close relationship within each and between the 6 cognitive characteristics. Also there was a close relationship within each and between the 7 sociocultural characteristics of national identity. (2) Some demographic variables, such as age of respondents, place of birth and level of understanding of Korean language contributed to acquisition of national identity. (3) Among several demographic variables, nationality was the most explainable.

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Epidemiologic Survey of Infantile Cancer in Iran based on the Data of the Largest Pediatric Cancer Referral Center (Ali-Asghar Children Hospital), 1996-2005

  • Bahoush-Mehdiabadi, Gholamreza;Habibi, Roshanak;Shariftabrizi, Ahmad;Vossough, Parvaneh
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.3
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    • pp.1211-1217
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    • 2014
  • Background: Cancer in infants younger than one year of age represents a unique problem with distinct epidemiological, clinical and genetic characteristics compared with older age groups. No report is yet available from Iran regarding epidemiological and survival rate of cancers diagnosed in this age group. Materials and Methods: The population under study comprised of patients which were diagnosed and admitted to Ali-Asghar hospital between years 1996-2005. In total, 287 infants were included in the retrospective descriptive survey. Patient files were evaluated for age of patient at the time of diagnosis, sex, geographical residence, consanguinity of parents, histological diagnosis, site of cancer involvement, type of therapy, date of last follow-up and cause of death (if applicable). Results: The average age at the time of diagnosis was 7.2 months old. The most frequent malignancy was retinoblastoma (44%), followed by leukemia (19%) and neuroblastoma (10%), with five-year overall survival rates of 77.7%, 41% and 90%, respectively Parents of 40 infants (13.9%) had consanguinity relationships. Conclusions: Although we cannot make any conclusions regarding the incidence of infant cancer subtypes based on this study, survival rates for major types were similar to the developed countries, which signifies strict adherence to standards of care in Ali-Asghar hospital, the main infant cancer care centre in Iran. A Childhood Cancer Registry with high-resolution data collection and also advanced genetic testing is advocated for in-depth analysis of variation in incidence and survival.

The Acquisition of National Identity: A Comparison of In-country and Over-seas Korean Adolescents (한국청소년과 재외교포 청소년의 민족정체감조사 비교)

  • Yi, Soon Hyung
    • Korean Journal of Child Studies
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    • v.13 no.2
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    • pp.99-112
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    • 1992
  • The purpose of the present study was to investigate methodological and theoretical problems in measuring the acquisition of national identity of in-country and over-seas Korean adolescents. The subjects consisted of 344 in-country and 89 over-seas (total 433) adolescents. 14 to 26 years of age. Data were collected with the use of two questionnaires. The Cognition of National Characteristics(CNC) and The Measure of National Belongings(MNB). As statistical measures. F-test and Pearson's correlation coefficient were used. The results are disclosed as follows; 1) The concept of national identity organized not only cognition of the national characteristics in multi-dimension which is related each other, but also a sense of belonging. 2) Two measuring methods(CNC and MNB) for this study are closely related. 3) Overseas Korean adolescents performed more than in-country Korean adolescents in 5 sub-national characteristics(language, social norm, history of the nation, & breaking with ideological thinking) except the consanguinity, of CNC and MNB. Crisis hypothesis was supposed as alternative factor to explain that overseas Korean adolescents cognified about the national characteristics and feel a sense of belonging more than the in-country respondents. 4) Some demographic variables, such as age of the respondents, place of birth, level of understanding Korean language, are contributed to acquiring national identity.

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Epidemiology, Major Risk Factors and Genetic Predisposition for Breast Cancer in the Pakistani Population

  • Shaukat, Uzma;Ismail, Muhammad;Mehmood, Nasir
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5625-5629
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    • 2013
  • Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors. Variations in diversity of these factors among different ethnic groups and geographical areas emphasize the immense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highest in Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India, accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breast cancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor for frequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groups within Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of genetic predisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remains unexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified. For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breast cancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factors found in the local Pakistani population and the epidemiological research work done to emphasize the importance of exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidence in our country.

Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan

  • Aziz, Faiza;Fatima, Warda;Mahmood, Saqib;Khokher, Samina
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1725-1727
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    • 2016
  • Breast cancer contributes to approximately 23% of the cancer cases identified and 14% of cancer related deaths worldwide. Including a strong association between genetic and environmental factors, breast cancer is a complex and multi factorial disorder. Two high penetration breast cancer susceptibility genes (BRCA1 and BRCA2) have been identified, and germ line mutations in these are thought to account for between 5% and 10% of all breast cancer cases. The human BRCA1 gene, located on 17q, is involved in the regulation of cell proliferation by aiding in DNA repair, transcriptional responses to DNA damage and cell cycle check points. Mutations in this gene enhance cell proliferation and facilitate formation of tumors. Two mutations, the 185 deletion of AG and the 4627 substitution from C to A, are founder mutations in the BRCA1 gene for breast cancer in Asian populations. Allele specific PCR was performed to detect these selected mutations in 120 samples. No mutation of 4627 C to A was detected in the samples and only one of the patients had the 185 del AG mutation in the heterozygous condition. Our collected samples had lower consanguinity and family history indicating the greater involvement of environmental as compared to genetic factors.

Chosun Mathematician Hong Jung Ha's Genealogy (조선(朝鮮) 산학자(算學者) 홍정하(洪正夏)의 계보(系譜))

  • Kim, Chang-Il;Hong, Sung-Sa;Hong, Young-Hee
    • Journal for History of Mathematics
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    • v.23 no.3
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    • pp.1-20
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    • 2010
  • Hong Jung Ha(洪正夏, 1684~?) is the greatest mathematician in Chosun dynasty and wrote a mathematics book Gu Il Jib(九一集) which excels in the area of theory of equations including Gou Gu Shu. The purpose of this paper is to find his influence on the history of Chosun mathematics. He belongs to ChungIn(中人) class and works only in HoJo(戶曹) and hence his contact to other mathematicians is limited. Investigating his colleagues and kinship relations including the affinity and consanguinity, we conclude that he gave a great influence to those people and find that three great ChungIn mathematicans Gyung Sun Jing(慶善徵, 1684~?), Hong Jung Ha and Lee Sang Hyuk(李尙爀, 1810~?) are all related through marriage.

10 year follow up of a boy with Lesch Nyhan Syndrome

  • Kim, Sook Za;Song, Wung Ju
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.11 no.1
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    • pp.88-98
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    • 2011
  • Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

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