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BRCA1/2基因变异携带者患皮肤癌的风险。

Skin cancer risk in BRCA1/2 mutation carriers.

作者信息

Gumaste P V, Penn L A, Cymerman R M, Kirchhoff T, Polsky D, McLellan B

机构信息

The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, U.S.A.

Departments of Population Health and Environmental Medicine, New York University School of Medicine, New York, NY, U.S.A.

出版信息

Br J Dermatol. 2015 Jun;172(6):1498-1506. doi: 10.1111/bjd.13626. Epub 2015 Apr 29.

Abstract

Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counselled about skin cancer risks and may benefit from yearly full skin examinations.

摘要

携带BRCA1/2基因突变的女性患乳腺癌和卵巢癌的风险会升高。这些患者及其临床医生常常担心自己患其他癌症的风险,包括皮肤癌。评估BRCA1/2基因突变与皮肤癌之间关联的研究有限,且结果并不一致。在此,我们综述了目前关于BRCA1/2基因突变携带者患黑色素瘤和非黑色素瘤皮肤癌风险的文献。没有研究表明BRCA1家族患黑色素瘤的风险具有统计学意义。在大型乳腺癌和卵巢癌家族中,BRCA2基因突变与黑色素瘤有关联,不过只有一项研究报告了具有统计学意义的风险升高。另外五项研究显示BRCA2基因突变与黑色素瘤之间存在某种关联,而四项研究未发现任何关联。关于非黑色素瘤皮肤癌,各项研究结果相互矛盾。鉴于当前的医学知识水平,在没有标准风险因素的情况下,没有足够的证据支持对确诊携带BRCA1/2基因突变或有BRCA1/2基因突变家族史的患者加强皮肤癌监测。尽管如此,对于疑似携带BRCA1/2基因突变者,应就皮肤癌风险给予咨询,他们可能会从每年一次的全面皮肤检查中受益。

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