• Title/Summary/Keyword: Hereditary breast-ovarian cancer syndrome

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Knowledge and Anxiety Related to Hereditary Ovarian Cancer in Serous Ovarian Cancer Patients (장액성 난소암 환자의 유전성 난소암에 대한 지식 및 불안정도)

  • Lee, Sang Hee;Lee, Hyangkyu;Lim, Myong Cheol;Kim, Sue
    • Women's Health Nursing
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    • v.25 no.4
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    • pp.365-378
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    • 2019
  • Purpose: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies in the ovarian cancer population are limited. This paper aimed to investigate the level of knowledge of hereditary ovarian cancer and anxiety in women diagnosed with serous ovarian cancer in Korea and determine differences in the knowledge and anxiety according to whether genetic testing was undertaken and whether BRCA1 or BRCA2 mutations were present. Methods: Using a descriptive research design, a cross-sectional survey was conducted on 100 women diagnosed with serous ovarian cancer at N hospital in Gyeonggi-do, Korea, from July to November 2018. The collected data were analyzed by descriptive statistics, independent t-tests, one-way analysis of variance, and Pearson's correlation coefficient using the SPSS 21.0 program. Results: The hereditary ovarian cancer-related knowledge score was mid-level (mean score 8.90±3.29 out of a total of 17), as was the state anxiety level was mid-level (mean score 47.96±3.26 out of possible score range of 20-80). Genetic knowledge of hereditary ovarian cancer was associated with age, education, occupation, genetic counseling, and BRCA mutations. There were no statistically significant factors related to anxiety and there were no statistically significant correlations between knowledge level and anxiety. Conclusion: More comprehensive education on gene-related cancer is needed for ovarian cancer patients, especially for items with low knowledge scores. A genetic counseling protocol should be developed to allow more patients to alleviate their anxiety through genetic counseling.

One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

  • Yim, Seon-Hee;Lee, Keun-Ho;Lee, Ah-Won;Jung, Eun-Sun;Choi, Yeong-Jin
    • Journal of Genetic Medicine
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    • v.6 no.2
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    • pp.179-182
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    • 2009
  • Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70 years were 39% and 11%, respectively. There are other hereditary cancer syndromes such as Hereditary nonpolyposis colorectal cancer also confer a higher risk for developing ovarian cancer, but over 90% of all hereditary ovarian cancers are thought to be associated with BRCA1 or BRCA2 mutations. This report concerns a Korean woman diagnosed with ovarian cancer present with a family history of ovarian and various other cancers, in whom a germline BRCA1 mutation was identified and the same mutation was found in one of two daughters of her's. Since there could be more hereditary ovarian cancer patients in Korean than clinicians thought, both primary and secondary prevention of ovarian cancer based on family history and genetic information is important to reduce cancer incidence and mortality.

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BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia

  • Mundhofir, Farmaditya EP;Wulandari, Catharina Endah;Prajoko, Yan Wisnu;Winarni, Tri Indah
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1539-1546
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    • 2016
  • Specific patterns of the hereditary breast and ovarian cancer (HBOC) syndrome are related to mutations in the BRCA1 gene. One hundred unrelated breast cancer patients were interviewed to obtain clinical symptoms and signs, pedigree and familial history of HBOC syndrome related cancer. Subsequently, data were calculated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk prediction model. Patients with high score of BOADICEA were offered genetic testing. Eleven patients with high score of BOADICEA, 2 patients with low score of BOADICEA, 2 patient's family members and 15 controls underwent BRCA1 genetic testing. Mutation screening using PCR-HRM was carried out in 22 exons (41 amplicons) of BRCA1 gene. Sanger sequencing was subjected in all samples with aberrant graph. This study identified 10 variants in the BRCA1 gene, consisting of 6 missense mutations (c.1480C>A, c.2612C>T, c.2566T>C, c.3113A>G, c.3548 A>G, c.4837 A>G), 3 synonymous mutations (c.2082 C>T, c.2311 T>C and c.4308T>C) and one intronic mutation (c.134+35 G>T). All variants tend to be polymorphisms and unclassified variants. However, no known pathogenic mutations were found.

Factors associated with the decision to undergo risk-reducing salpingo-oophorectomy among women at high risk for hereditary breast and ovarian cancer: a systematic review

  • Park, Sun-young;Kim, Youlim;Kim, Sue
    • Women's Health Nursing
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    • v.26 no.4
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    • pp.285-299
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    • 2020
  • Purpose: This systematic review aims to identify factors associated with risk-reducing salpingo-oophorectomy (RRSO), including the uptake rate and decision timing, among women at high risk for hereditary breast and ovarian cancer (HBOC). Methods: We found 4,935 relevant studies using MEDLINE, Embase, CINAHL, and PsycINFO on July 6, 2020. Two authors screened the articles and extracted data. Twenty-four studies met the inclusion criteria. Quality assessment of articles was conducted using the Risk of Bias for Nonrandomized Studies tool. Results: Five types of factors were identified (demographic factors, clinical factors, family history of cancer, psychological factors, and objective cancer risk). The specific significant factors were older age, having child(ren), being a BRCA1/2 carrier, mastectomy history, perceived risk for ovarian cancer, and perceived advantages of RRSO, whereas objective cancer risk was not significant. The uptake rate of RRSO was 23.4% to 87.2% (mean, 45.2%) among high-risk women for HBOC. The mean time to decide whether to undergo RRSO after BRCA testing was 4 to 34 months. Conclusion: RRSO decisions are affected by demographic, clinical, and psychological factors, rather than objective cancer risk. Nonetheless, women seeking RRSO should be offered information about objective cancer risk. Even though decision-making for RRSO is a complex and multifaceted process, the psychosocial factors that may influence decisions have not been comprehensively examined, including family attitudes toward RRSO, cultural norms, social values, and health care providers' attitudes.