Management of a woman with a family history of breast cancer

EL Lynch Grad Dip Genetic Counselling , RA Eeles PhD FRCP FRCR
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引用次数: 3

Abstract

Recent media publicity about breast cancer has caused concern for many women. Most women with a relative with breast cancer are not at substantially increased risk. NICE released revised guidelines in 2004 classifying women into risk groups. When a woman presents with concerns, it is important to take a full family history. For those that fit into a high-risk group, referral to tertiary care may be appropriate. Genetic testing of BRCA1 and BRCA2 may be offered in families where there is a living affected family member to test first and can be offered to unaffected individuals when there is Ashkenazi Jewish background. Breast management options for those at high risk include breast screening from a young age. MRI screening also appears to be useful. The efficacy of ovarian screening is being studied although it is known that prophylactic oophrectomy before menopause reduces the risk of both breast and ovarian cancer. Prophylactic mastectomy is also an option for these women. Genetic counselling and psychosocial support are important.

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一位有乳腺癌家族史的女性的治疗
最近媒体对乳腺癌的宣传引起了许多女性的关注。大多数有亲属患有乳腺癌的女性患病风险并没有明显增加。NICE在2004年发布了修订后的指南,将女性划分为危险群体。当女性表现出担忧时,重要的是要了解完整的家族史。对于属于高危人群的患者,转诊到三级保健可能是合适的。BRCA1和BRCA2基因检测可以在有患病家庭成员的家庭中进行,如果有德系犹太人背景,可以向未受影响的个体提供。高风险人群的乳房管理选择包括从年轻时开始进行乳房筛查。核磁共振成像筛查似乎也是有用的。目前正在研究卵巢筛查的效果,但众所周知,绝经前预防性卵巢切除术可降低患乳腺癌和卵巢癌的风险。预防性乳房切除术也是这些女性的一种选择。遗传咨询和社会心理支持很重要。
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