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遗传学:以乳腺癌为例

Genetics: breast cancer as an exemplar.

作者信息

Hamilton Rebekah

机构信息

Department of Women, Children and Family Health Science, College of Nursing, University of Illinois at Chicago, Chicago, IL 60612, USA.

出版信息

Nurs Clin North Am. 2009 Sep;44(3):327-38. doi: 10.1016/j.cnur.2009.06.004.

DOI:10.1016/j.cnur.2009.06.004
PMID:19683094
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2748903/
Abstract

Genetic testing for adult-onset diseases is now available. One such test is for the mutations present in the BRCA gene that result in a significantly higher risk for the development of breast cancer or ovarian cancer. Women who have one of these mutations face difficult choices in terms of increased surveillance or prophylactic surgeries. Examining experiences of women with BRCA mutations can serve as an exemplar for other populations at risk for genetically associated adult-onset diseases.

摘要

现在可以进行成人发病疾病的基因检测。其中一种检测是针对BRCA基因中存在的突变,这些突变会导致患乳腺癌或卵巢癌的风险显著增加。携带这些突变之一的女性在加强监测或预防性手术方面面临艰难抉择。研究携带BRCA突变的女性的经历可以为其他有患成人发病的基因相关疾病风险的人群提供范例。

相似文献

1
Genetics: breast cancer as an exemplar.遗传学:以乳腺癌为例
Nurs Clin North Am. 2009 Sep;44(3):327-38. doi: 10.1016/j.cnur.2009.06.004.
2
Hereditary breast-ovarian cancer: clinical findings and medical management.遗传性乳腺癌-卵巢癌:临床发现与医学管理
Plast Surg Nurs. 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7.
3
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Obstet Gynecol. 2009 Apr;113(4):957-966. doi: 10.1097/AOG.0b013e3181a106d4.
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Breast cancer and the family tree. An issue for all practice settings.
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The role of BRCA mutation testing in determining breast cancer therapy.BRCA 突变检测在乳腺癌治疗中的作用。
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Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing.前来进行临床BRCA基因易感性检测的女性的癌症监测行为。
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Women's decisions regarding management of breast cancer risk.女性关于乳腺癌风险管理的决策。
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引用本文的文献

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Health-related Quality of Life in Metastatic and Adjuvant Breast Cancer Patients.转移性和辅助性乳腺癌患者的健康相关生活质量
Geburtshilfe Frauenheilkd. 2016 Oct;76(10):1065-1073. doi: 10.1055/s-0042-113188.
2
Biopsychological stress factors in BRCA mutation carriers.BRCA 突变携带者的生物心理应激因素。
Psychosomatics. 2012 Nov-Dec;53(6):582-90. doi: 10.1016/j.psym.2012.06.007.

本文引用的文献

1
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估:乳腺癌、卵巢癌和胰腺癌,第 2.2021 版,NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
2
Family stories and the use of heuristics: women from suspected hereditary breast and ovarian cancer (HBOC) families.家族故事与启发法的运用:疑似遗传性乳腺癌和卵巢癌(HBOC)家族的女性
Sociol Health Illn. 2003 Nov;25(7):838-65. doi: 10.1046/j.1467-9566.2003.00372.x.
3
Living with genetic test results for hereditary breast and ovarian cancer.携带遗传性乳腺癌和卵巢癌基因检测结果生活。
J Nurs Scholarsh. 2009;41(3):276-83. doi: 10.1111/j.1547-5069.2009.01279.x.
4
The effect of BRCA gene testing on family relationships: A thematic analysis of qualitative interviews.BRCA基因检测对家庭关系的影响:定性访谈的主题分析
J Genet Couns. 2009 Oct;18(5):418-35. doi: 10.1007/s10897-009-9232-1. Epub 2009 May 29.
5
Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes.未告知 BRCA1/2 结果的女性的困扰:12 个月的结果。
Psychooncology. 2009 Oct;18(10):1088-96. doi: 10.1002/pon.1467.
6
Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer.有遗传性乳腺癌和卵巢癌风险的18至39岁女性的生命轨迹、基因检测及降低风险决策
J Genet Couns. 2009 Apr;18(2):147-59. doi: 10.1007/s10897-008-9200-1. Epub 2008 Nov 1.
7
The phases of disclosing BRCA1/2 genetic information to offspring.向后代披露BRCA1/2基因信息的阶段。
Psychooncology. 2008 Aug;17(8):797-803. doi: 10.1002/pon.1344.
8
Risk perception and cancer worries in families at increased risk of familial breast/ovarian cancer.家族性乳腺癌/卵巢癌风险增加的家庭中的风险认知与癌症担忧
Psychooncology. 2008 Aug;17(8):756-66. doi: 10.1002/pon.1370.
9
Health behaviors and psychological distress in women initiating BRCA1/2 genetic testing: comparison with control population.启动BRCA1/2基因检测的女性的健康行为与心理困扰:与对照人群的比较。
J Genet Couns. 2008 Aug;17(4):314-26. doi: 10.1007/s10897-008-9150-7. Epub 2008 May 15.
10
Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.在一组前瞻性队列中,对未受影响的BRCA1和BRCA2基因突变携带者进行双侧预防性卵巢切除术和双侧预防性乳房切除术。
Clin Breast Cancer. 2007 Dec;7(11):875-82. doi: 10.3816/CBC.2007.n.053.