• Title, Summary, Keyword: hereditary breast cancer

Search Result 39, Processing Time 0.041 seconds

Hereditary Genes and SNPs Associated with Breast Cancer

  • Mahdi, Kooshyar Mohammad;Nassiri, Mohammad Reza;Nasiri, Khadijeh
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.6
    • /
    • pp.3403-3409
    • /
    • 2013
  • Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.

Experiences of Breast Cancer Women Undertaking Genetic Test (국내 고위험 유전성 유방암 환자의 유전자검사 경험)

  • Jun, Myung-Hee;Choi, Kyung-Sook;Ahn, Sei-Hyun;Gu, Bo-Kyung
    • Asian Oncology Nursing
    • /
    • v.5 no.2
    • /
    • pp.146-158
    • /
    • 2005
  • Purpose: This study was to obtain a understanding of breast cancer women with high risk for hereditary cancer syndrome. Method: A micro-ethnography was used, including participation observation, open-ended in-depth interviews. Results: Two major arguments were derived. First, When Korean women at high risk to hereditary breast cancer make a decision about whether to take a genetic test, they are strongly motivated by a desire to preserve close kinship bonds and "family love" among their siblings, parents and children. Second, Even after genetic risk assessment and counseling services, Korean women at high-risk for developing a hereditary breast cancer who have been informed that they are mutation carriers, still hold onto previous beliefs about cancer causation. Their cancer prevention strategies are constructed according to their unchanged perceptions and beliefs about cancer causation. Conclusion: More sensitive genetic counseling program needs to be developed. Referral programs and clinical services must be attentive to cultural values and beliefs otherwise cultural attitudes and practices toward genetic counseling will not change.

  • PDF

The Knowledge of Hereditary Breast Cancer in Korean Nurses (국내 간호사의 유전성 유방암에 대한 지식정도 조사연구)

  • Choi, Kyung-Sook;So, Hyang-Sook;Tae, Young-Sook;Eun, Young;Suh, Soon-Rim;Lee, Woo-Sook;Chong, Hae-Sun;Kim, Yeon-Hee;Joo, Myung-Soon;Lee, Yu-Mi;Jung, Ji-Young;Kim, Kwang-Ho;Jun, Myung-Hee
    • The Journal of Korean Academic Society of Nursing Education
    • /
    • v.12 no.2
    • /
    • pp.272-279
    • /
    • 2006
  • Background: After Genome project, cancer genetic information is being rapidly changing. Everyday nurses are incorporating current cancer genetic knowledge and genetic testing into their practice. So their cancer genetic knowledge is important for ensuring quality of cancer patient care and education. Purpose: This study is performed for describing the Korean nurses' current knowledge level about the hereditary breast cancer. Method: This national wide survey used 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). Three hundred and nine nurses were recruited for this survey from April 1, 2006 to September 30, 2006. Result: Nurses' knowledge level about the hereditary breast cancer was not high. Clinical nurses with master degree, working large hospital located in Seoul had higher knowledge about hereditary breast cancer. Education related to cancer genetics was significantly impact on the level of nurses' knowledge. Conclusion: Cancer genetic educational program for Korean nurses is strongly needed for delivering cancer care services sensitive to ever-changing cancer genetic information.

  • PDF

Physicians' Knowledge about Hereditary Breast Cancer in South Korea (국내 임상 의사의 유전성 유방암에 대한 지식도)

  • Choi, Kyung-Sook;Tae, Young-Sook;So, Hyang-Sook;Lee, Woo-Sook;Hur, Myung-Haeng;Kang, Mi-Young;Son, Song-Yi;Lee, Mi-Hi;Lee, Young-Lan;Choi, In-Soon;Jang, Eun-Sil;Kim, Seong-Jae;Jun, Myung-Hee
    • The Journal of Korean Academic Society of Nursing Education
    • /
    • v.13 no.1
    • /
    • pp.105-113
    • /
    • 2007
  • Background: Cancer genetics have gained public attention dramatically. Everyday physicians and nurses use the knowledge of cancer genetics in their practices. Despite the importance of the knowledge of the health care providers on cancer genetics, there is a paucity of literature investigating the levels of knowledge about cancer genetics among health care providers. Purpose: This study aimed to describe the Korean physicians' current knowledge level about hereditary breast and ovarian cancer (HBOC). Method: This nation-wide survey used a 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). One hundred and forty-four physicians participated in this survey from October 1, 2006 to March 31, 2007. Result: Physicians' knowledge level about hereditary breast cancer was 11.94 (S.D=2.46). Physicians with short-term careers (less than one year), the position of Intern, or who were involved in breast or ovarian cancer care demonstrated the highest knowledge about HBOC. Conclusion: Genetic courses in medical education seemed to contribute to the high level of physicians' genetic knowledge. Also, nursing discipline needs to incorporate genetics or genetic counseling courses into the formal educational curriculum in order to deliver up to date cancer care services which are sensitive to ever-changing cancer genetic information.

  • PDF

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
    • Korean Journal of Women Health Nursing
    • /
    • v.25 no.4
    • /
    • pp.365-378
    • /
    • 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.

Hereditary Breast Cancer in Korea

  • Kim, Sung-Won
    • Journal of Genetic Medicine
    • /
    • v.9 no.1
    • /
    • pp.1-10
    • /
    • 2012
  • About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the primary genes underlying HBC. The average cumulative risks in BRCA1 mutation carriers at 70 years of age are 65% (95% confidence interval 44-78%) for BC and 39% (18-54%) for ovarian cancer (OC). The corresponding estimates for BRCA2 are 45% (31-56%) and 11% (2.4-19%), respectively. The penetrance of BRCA mutations is not the same between patients and can depend on factors such as race and birth-cohort. The Korean Hereditary Breast Cancer (KOHBRA) study is a large prospective nationwide study that includes 39 participating centers. Between May 2007 and May 2010, the first phase of the KOHBRA study was planned and fulfilled successfully. The primary aim of phase I was to estimate the prevalence of BRCA1/2 mutations and OC among a high-risk group of patients with HBC and their families. According to data collected during phase I of the study, the prevalence and penetrance of BRCA mutations were comparable to corresponding data from Western countries. For the second phase of the KOHBRA study, we are currently investigating a Korean BRCA mutation prediction model, prognostic factors in BRCA-related BC, environmental/genetic modifiers, and implementing a genetic counseling network. The final goal of the KOHBRA study is to create clinical practice guidelines for HBC in Korea. In this article, I review the genetics of HBC, summarize the characteristics of Korean HBC, and discuss current and future HBC research in Korea.

Hereditary cancer and genetic counseling (유전성 암과 유전상담)

  • Jeong, Seung-Yong
    • Journal of Genetic Medicine
    • /
    • v.4 no.1
    • /
    • pp.15-21
    • /
    • 2007
  • Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

  • PDF

Influence of the Angelina Jolie Announcement and Insurance Reimbursement on Practice Patterns for Hereditary Breast Cancer

  • Lee, Jihyoun;Kim, Sungwon;Kang, Eunyoung;Park, Suyeon;Kim, Zisun;Lee, Min Hyuk;The Korean Breast Cancer Society
    • Journal of Breast Cancer
    • /
    • v.20 no.2
    • /
    • pp.203-207
    • /
    • 2017
  • Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database. From May to August 2016, 70 physicians responded to the survey. Genetic testing recommendations and prophylactic management were increased after the announcement. Risk-reducing salpingo-oophorectomy and contralateral prophylactic mastectomy was significantly increased in BRCA carriers with breast cancer. The BRCA testing rate increased annually. Health insurance and a celebrity announcement were associated with increased genetic testing.

Experiences of Korean-American Women with High Risk Hereditary Breast Cancer (고위험 유전성 유방암을 지닌 한국계 미국 여성의 질병경험)

  • Choi, Kyung-Sook;Jun, Myung-Hee;Anderson, Gwen
    • Asian Oncology Nursing
    • /
    • v.12 no.2
    • /
    • pp.175-185
    • /
    • 2012
  • Purpose: This micro-ethnographic study aimed to understand coping experiences of Korean-American (K-A) women after diagnosis with breast cancer due to a hereditary gene mutation. Methods: Participatory observation and in-depth interviews were performed at one breast cancer screening center in Southern California, in 2005 with eleven first generation K-A immigrant women. All transcribed interviews and field notes were analyzed using ethnographic methodology. Results: K-A women's experience varied based on acculturation risk factors including: limited English speaking ability; disrupted family relationships, individualistic family values, or intergenerational communication barriers; lack of Korean speaking nurses; and Korean physicians' who lacked knowledge about hereditary breast cancer risk. These risk factors led to isolation, loneliness, lack of emotional and social support. In comparison to Korean homeland women in a similar medical situation, these K-A immigrants felt disconnected from the healthcare system, family support and social resources which increased their struggling and impeded coping during their survivorship journey. These women were not able to access self-support groups, nor the valuable resources of nurse navigator programs. Conclusion: Professional oncology associations for nurses and physicians have a moral obligation to support and promote knowledge of hereditary cancer risk and self-help groups for non-native speaking immigrants.

Implementing and Evaluating a Nurse Led Hereditary Cancer Genetics Educational Program in a Korean Breast Cancer Surgery Clinic (한국형 유방 난소 종양유전상담 프로그램 적용 및 평가)

  • Choi, Kyung-Sook;Jun, Myung-Hee;Ahn, Sei-Hyun;Anderson, Gwen
    • Korean Journal of Adult Nursing
    • /
    • v.20 no.6
    • /
    • pp.815-828
    • /
    • 2008
  • Purpose: This study was to develop and evaluate the clinical utility of the breast and ovarian cancer genetic counselling program specific for 20 Korean women(KBOCGP). Methods: The KBOCGP was developed using three types of approaches: an ethnography among Korean women who underwent BRCA1/2 test, designing and implementing one week clinical genetic educational course for clinical cancer nurses, educational observation visits to three American cancer genetic counselling programs. And then pre-experimental design was implicated to evaluate the change of the women's knowledge about the hereditary breast and ovarian cancer and the level of the satisfaction with genetic counselling. Results: The mean score of the knowledge has significantly increased from $7.45{\pm}3.86$ to $11.55{\pm}2.21$ (t = 5.63, p < .001). The level of the satisfaction with the counselling was very high ($27.47{\pm}1.35$). Because most of the subjects have young kids, they showed strong concerns about their kids' getting cancer. Conclusion: This new KBOCGP is the satisfactory program for the education and communication of the genetic information to the Korean women with HBOC. But it is needed more to strengthen the cultural sensitivity especially to Korean family relationships. Authors recommend that this program be provided by other nurses who are counselling women at high risk of breast cancer.

  • PDF