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1
Setting up a breast cancer family history clinic.设立乳腺癌家族病史诊所。
Ann R Coll Surg Engl. 1999 Nov;81(6):393-8.
2
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.与BRCA1和BRCA2基因突变相关的遗传性乳腺癌卵巢癌综合征家族中女性接受预防性卵巢切除术后的腹腔内癌转移
Gynecol Oncol. 2005 May;97(2):457-67. doi: 10.1016/j.ygyno.2005.01.039.
3
Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation.对来自携带BRCA1或BRCA2基因突变家族的乳腺癌或卵巢癌女性使用基因检测、预防性乳房切除术和卵巢切除术。
J Clin Oncol. 2003 May 1;21(9):1675-81. doi: 10.1200/JCO.2003.09.052.
4
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.
5
Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer.BRCA1/2 基因突变携带者以及乳腺癌和卵巢癌高危女性的预防与治疗。
Eur J Cancer Prev. 2000 Jun;9(3):139-50.
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J Clin Oncol. 2004 Mar 15;22(6):1055-62. doi: 10.1200/JCO.2004.04.188. Epub 2004 Feb 23.
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[Clinical and molecular diagnosis of inherited breast-ovarian cancer].遗传性乳腺癌-卵巢癌的临床与分子诊断
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The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.携带BRCA1和BRCA2基因突变的阿什肯纳兹犹太人群患乳腺癌的终生风险。
Cancer Epidemiol Biomarkers Prev. 2001 May;10(5):467-73.
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Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: a single-institution study.接受BRCA1和BRCA2检测的女性临床特征与风险降低干预措施之间的关联:一项单机构研究。
Cancer. 2006 Dec 15;107(12):2745-51. doi: 10.1002/cncr.22352.

本文引用的文献

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Familial breast cancer: a controlled study of risk perception, psychological morbidity and health beliefs in women attending for genetic counselling.家族性乳腺癌:对参加遗传咨询的女性的风险认知、心理发病率和健康信念的对照研究。
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Changes in incidence of and mortality from breast cancer in England and Wales since introduction of screening. United Kingdom Association of Cancer Registries.自引入筛查以来,英格兰和威尔士乳腺癌发病率及死亡率的变化。英国癌症登记协会。
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Perception of risk in women with a family history of breast cancer.有乳腺癌家族史女性的风险认知。
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10
The impact of genetic counselling on risk perception in women with a family history of breast cancer.遗传咨询对有乳腺癌家族史女性风险认知的影响。
Br J Cancer. 1994 Nov;70(5):934-8. doi: 10.1038/bjc.1994.423.

设立乳腺癌家族病史诊所。

Setting up a breast cancer family history clinic.

作者信息

Saunders C, Vijay V, Stein J, Baum M

机构信息

Department of Surgery, Royal Free and University College Medical School, London, UK.

出版信息

Ann R Coll Surg Engl. 1999 Nov;81(6):393-8.

PMID:10655892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2503325/
Abstract

Breast cancer causes around 21,000 deaths per year in the UK, the vast majority of these occurring in women aged over 50 years with no genetic predisposition to the disease. Screening and symptomatic services for these women, although by no means perfect or homogeneous, have gradually improved over the last 10 years and, perhaps as a result of this, together with increased use of adjuvant systemic therapy, mortality in this group has fallen. Despite this reassuring state of affairs, media interest in the disease and patients' perception of their risk of developing breast cancer have risen. Part of this is undoubtedly due to the new scientific developments in cancer genetics and, in particular, identification of the BRCA1 gene in 1994 and BRCA2 gene shortly afterwards. These genes are dominantly inherited with up to 80% penetrance; thus, women (and occasionally men) inherit these genes and have a high lifetime risk of developing breast cancer, usually at a younger age than average and possibly of a more aggressive phenotype. Unaffected family members can now be screened and, if they prove carriers, screening for early detection and prevention strategies such as bilateral prophylactic mastectomy can be offered. Because of the high risk of ovarian cancer in BRCA1 carriers, screening or prophylactic ovariectomy may also be considered.

摘要

在英国,乳腺癌每年导致约2.1万人死亡,其中绝大多数发生在50岁以上且无该疾病遗传易感性的女性身上。针对这些女性的筛查和症状性服务,尽管远非完美或统一,但在过去10年中已逐渐改善,或许正因如此,再加上辅助性全身治疗的使用增加,该群体的死亡率有所下降。尽管情况令人欣慰,但媒体对该疾病的关注以及患者对自身患乳腺癌风险的认知却有所上升。部分原因无疑是癌症遗传学的新科学进展,特别是1994年BRCA1基因的鉴定以及随后不久BRCA2基因的鉴定。这些基因呈显性遗传,外显率高达80%;因此,女性(偶尔也有男性)继承这些基因后,一生中患乳腺癌的风险很高,通常发病年龄比平均水平小,且可能具有更具侵袭性的表型。现在可以对未受影响的家庭成员进行筛查,如果他们被证明是携带者,可以提供诸如双侧预防性乳房切除术等早期检测和预防策略的筛查。由于BRCA1基因携带者患卵巢癌的风险很高,也可考虑进行筛查或预防性卵巢切除术。