携带 BRCA1 或 BRCA2 基因突变的女性患皮肤癌的风险。

IF 2 4区 医学 Q3 ONCOLOGY
Steven A Narod, Kelly Metcalfe, Amy Finch, An-Wen Chan, Susan Randall Armel, Amber Aeilts, Andrea Eisen, Beth Karlan, Louise Bordeleau, Nadine Tung, William D Foulkes, Susan L Neuhausen, Charis Eng, Olufunmilayo Olopade, Dana Zakalik, Fergus Couch, Carey Cullinane, Tuya Pal, Ping Sun, Joanne Kotsopoulos
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引用次数: 0

摘要

背景:皮肤癌或黑色素瘤是否是 BRCA1 或 BRCA2 基因突变携带者身份的表现形式尚未明确确定。估计患皮肤癌的风险是制定筛查建议的重要一步:我们报告了一项前瞻性队列研究的结果,研究对象是北美 6207 名携带 BRCA1 或 BRCA2 基因突变的女性。从基线问卷调查之日起,对妇女进行随访,直至确诊皮肤癌、80 岁、因任何原因死亡或最后一次随访之日:在平均 8 年的随访期间,3.7% 的 BRCA1 基因突变妇女(3623 人中有 133 人)和 3.8%的 BRCA2 基因突变妇女(2584 人中有 99 人)确诊患有皮肤癌(包括角质细胞癌和黑色素瘤)。从 20 岁到 80 岁,BRCA1 基因携带者患各类皮肤癌的累积风险为 14.1%,BRCA2 基因携带者为 10.7%。BRCA1 基因携带者患黑色素瘤的累积风险为 2.5%,BRCA2 基因携带者为 2.3%,而美国普通人群中女性患黑色素瘤的累积风险为 1.5%。皮肤癌的最强风险因素是曾被诊断出患有皮肤癌:结论:携带 BRCA1 或 BRCA2 基因突变的女性罹患非黑色素瘤皮肤癌的风险与非携带者相似。患黑色素瘤的风险似乎略高。我们建议将 BRCA 基因突变携带者转介给皮肤科医生或初级保健提供者,让他们每年进行一次皮肤检查,并就限制紫外线照射、使用防晒霜和识别黑色素瘤的早期征兆提供咨询,但这还需要进一步的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.

Background: It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations.

Methods: We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up.

Results: During the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer.

Conclusion: The risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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