• Journal of Genetic Medicine
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• 제6권2호
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• pp.179-182
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• 2009

BRCA1과 BRCA2 유전자 돌연변이는 상염색체 우성양상으로 유전되면서 유방암과 난소암 발생위험을 높이는 것으로 알려져 있다. BRCA1 유전자 돌연변이를 가진 사람은 70세까지 난소암이 발생할 평균 누적위험도가 39% 가량 되고, BRCA2의 경우는 11% 가량된다. 이외에도 린치 신드롬이라고도 불리는 유전성 비용종성 대장암의 경우에도 난소암의 위험도가 높아지는 것으로 알려져 있으나, 유전성 난소암의 90% 정도는 BRCA 유전자 돌연변이에 기인하는 것으로 생각된다. 본 증례는 난소암 및 다른 암의 가족력을 보이면서 난소암으로 진단된 한국 여성의 사례로 본인과 두 딸 중 한명에서 BRCA1 유전자 돌연변이가 발견된 경우로, 가족력과 유전자 검사에 근거한 유전성 난소암 고위험군의 식별과 관리의 중요성을 시사한다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권4호
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• pp.1479-1485
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• 2015

Background: Even after completion of conventional treatment, breast cancer survivors continue to exhibit a variety of psychological and physical symptoms, affecting their quality of life. The study aimed to investigate the relationship between socio-demography, medical characteristics and health-related quality of life (HR-QOL) of a sample of breast cancer survivors in Malaysia. Materials and Methods: This pilot cross-sectional survey was conducted among breast cancer survivors (n=40) who were members of Breast Cancer Support Group Centre Johor Bahru. A validated self-administered questionnaire was used to identify the relationships between socio-demography, medical characteristics and HR-QOL of the participants. Results: Living with family and completion of treatment were significant predictive factors of self-rated QOL, while living with family and ever giving birth significantly predicted satisfaction with health and physical health. Psychological health had moderate correlations with number of children and early cancer stage. Survivors' higher personal income (>MYR4,500) was the only significant predictor of social relationship, while age, income more than MYR4,500 and giving birth significantly predicted environment domain score. Conclusions: The findings suggested the survivors coped better in all four HR-QOL domains if they were married, lived with family, had children and were employed.

• Asian Pacific Journal of Cancer Prevention
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• 제17권sup3호
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• pp.161-166
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• 2016

Iranian women are at high risk of low compliance with repeat mammography due to a lack of awareness about breast cancer, negative previous experiences, cultural beliefs, and no regular visits to a physician. Thus research is needed to explore factors associated with repeated mammography participation. Applying the concept of perceived risk as the guiding model, this study aimed to test the fit and strength of the relationship between perceived risk and physician recommendation in explaining repeat mammography. A total of 601 women, aged 50 years and older referred to mammography centers in region 6, were recruited via a convenience sampling method. Using path analysis, family history of breast cancer and other types of cancer were modeled as antecedent perceived risk, and physician recommendation and knowledge were modeled as an antecedent of the number of mammography visits. The model explained 49% of the variance in repeat mammography. The two factors of physician recommendation and breast self-examination had significant direct effects (P < 0.05) on repeat mammography. Perceived risk, knowledge, and family history of breast cancer had significant indirect effects on repeat mammography through physician recommendation. The results of this study provide a background for further research and interventions not only on Iranian women but also on similar cultural groups and immigrants who have been neglected to date in the mammography literature.

• Asian Pacific Journal of Cancer Prevention
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• 제14권2호
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• pp.853-857
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• 2013

Objectives: Breast cancer is a leading cause of morbidity and mortality in women worldwide. Breast screening in normal and/or asymptomatic women is essential to reduce the burden of breast malignancies. Our study aimed to identify possible risk- and/or co-factors associated with breast screening in North Indian women. Methods: A public health research survey was conducted among 100 women of North Indian ethnicity during clinic visits in a 6-month timeline (April-October 2012). Demographic and clinical data, including mammography screening, were recorded in the questionnaire-based proforma after conducting a 10 minute interview. Written informed consent was taken from all the participants. Results: The mean age of the participants was $32.2{\pm}9.9$ years. Out of 100 women, 6% had family history of breast disease. Breast-related complaints/malignancy, including galactorrhoea, mastitis, axillary lump, fibrocystic disease, fibroadenosis and adenocarcinoma were observed in 41% participants; age stratification revealed that 82.9% of this group (n=41) were <30 years, while 9.7% and 7.3% were >30 years and 30 years of age, respectively. 32% participants underwent mammography screening and 8% had breast ultrasound imaging. Age stratification in the mammography screening group demonstrated that 24 women were <40 years, while 7 women were >40 years. Conclusions: Our pilot study identified possible co-factors affecting breast screening in North Indian women. These findings may be beneficial in early detection of breast abnormalities, including malignancies in women susceptible to breast cancer, and thus aid in future design of cost-effective screening strategies to reduce the increasing burden of breast carcinoma in women worldwide.

• Asian Pacific Journal of Cancer Prevention
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• 제15권11호
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• pp.4411-4416
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• 2014

Breast cancer is the most common cancer in females all over the world with approximately one million new cases each year as well as one of second leading causes of death among females. In Pakistan, the most frequently diagnosed cancer among females is also breast cancer, accounting for nearly one in nine female patients. Its incidence in Pakistan is 2.5 times higher than that in neighboring countries like Iran and India. The risk factors associated with breast cancer are age, family history, early menarche, intake of combined estrogen and progestin menopausal hormones, alcohol consumption, physical inactivity, low socioeconomic status and lack of awareness regarding the disease. This mini-review article aims to provide awareness about breast cancer as well as an updated knowledge about the prevalence, risk factors and disease knowledge of breast cancer in Pakistan.

• Asian Pacific Journal of Cancer Prevention
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• 제17권4호
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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.

• Asian Pacific Journal of Cancer Prevention
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• 제15권16호
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• pp.6525-6529
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• 2014

Background: The aim of this study was to determine the health beliefs and knowledge about breast self examination (BSE) and the actual BSE habits of female university nursing students. Materials and Methods: The study sample recruited 189 nursing students who agreed to participate in the study. Descriptive statistics, the Mann-Whitney U test, one way ANOVA test, t test and Pearson correlation analysis were used to analyse the data. Results: 83.1% of nursing students had knowledge about breast cancer (BC) and BSE in the study. BSE was practiced by 70.4% of nursing students; 21.8% of them performed BSE regularly. A fear of developing BC was an incentive for 85% of nursing students to practice BSE. The confidence subscale scores in the third and fourth years of students' university education were higher, and the barrier subscale score in these same years was lower than their first years of study. Perception of benefit of nursing students experiencing breast-related discomfort exerted a positive effect. Nursing students with lower perception of barriesr performed BSE regularly. In conclusion, nursing students' years of university study, breast cancer knowledge, history of breast cancer in family, and BSE practice status were factors affecting their health beliefs. Conclusions: These study results indicate the importance of developing education and training programs which educate not only nursing students but all women about breast cancer, its symptoms, the importance of early diagnosis and of regular BSE.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5871-5874
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• 2012

Around 1.35 million people of worldwide suffer from breast cancer each year, whereas in India, 1 in every 17 women develops the disease. Mutations of the Breast Cancer 1 (BRCA1) gene account for the majority of breast/ovarian cancer families. The purpose of study was to provide a prevalence of BRCA1 germline mutations in the North-East Indian population. In relation to the personal and family history with the breast cancer, we found mutations in 6.25% and 12.5% respectively. Three mutations, 185DelAG, 1014DelGT and 3889DelAG, were observed in our North-East Indian patients in exons 2 and 11, resulting in truncation of the BRCA1 protein by forming stop codons individually at amino acid positions 39, 303 and 1265. Our results point to a necessity for an extensive mutation screening study of high risk breast cancer cases in our North-East Indian population, which will provide better decisive medical and surgical preventive options.

• Asian Pacific Journal of Cancer Prevention
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• 제13권4호
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• pp.1599-1603
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• 2012

Objectives: Since methylenetetrahydrofolate reductase (MTHFR) maintains the balance of circulating folate and methionine and blocks the formation of homocysteine, its regulation in relation to different cancers has extensively been studied in different populations. However, information on Pakistani breast cancer patients is lacking. The MTHFR gene has two most common mutations that are single nucleotide additions which result in change of amino acids C677T to Ala222val and A1298C to Glu429Ala. Methodology: 110 sporadic breast patients with no prior family history of cancer or any other type of genetic disorders along with 110 normal individuals were screened for mutations in exons 1 to exon 9 using single strand conformational polymorphism, RFLP and sequencing analyzer. Results: The p values for the 677CC, 677CT, and 677TT genotypes were 0.223, 0.006, and 0.077, respectively. Those for the 1298AA, 1298AC, and 1298CC genotypes were 0.555, 0.009, and 0.003, respectively. Conclusions: We found an overall a significant, weak inverse association between breast cancer risk and the 677TT genotype and an inverse association with the 1298C variant. These results for MTHFR polymorphism might be population specific in sporadic breast cancer affected patients but many other factors need to be excluded before making final conclusions including folate intake, population and disease heterogeneity.

• Asian Pacific Journal of Cancer Prevention
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• 제13권6호
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• pp.2675-2679
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• 2012

Introduction: Annually a considerable number of people die because of breast cancer, a common disease among women also in Iran. Identifying risk factors and susceptible people can lead to prevention or at least early diagnosis. Among susceptibility risks, 5-10% of patients have a family history predisposing factor which can influence the risk of incidence among the family. Having a registry program can be a more practical way to screen high risk families for preventive planning. Method: Based on inclusion criteria, a questionnaire was prepared and after a pilot study on a small number of patients, actual data were collected on 400 patients and processed in SPSS 16.0. Results: Totally, 28.2%of the patients were younger than 40 years old and 36.8% had the included criteria for familial breast cancer (FBC). 102 patient's samples could be compared for receptor presentation. Similar to other studies, the number of triple negative breast cancers increased as the age decreased. Conclusion: The high percentage of patients with FBC among 400 cases in this study demonstrates that in order to design an infrastructural diagnostic protocol and screening of patients with FBC, a precise survey related to frequency and founder mutations of FBC is needed nationwide.