期刊
ACTA ONCOLOGICA
卷 60, 期 7, 页码 888-896出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/0284186X.2021.1914346
关键词
Familial melanoma; CDKN2A; genetic testing; pancreatic cancer; multiple primary melanoma; mutations
类别
资金
- Swedish Cancer Society [CAN 2017/503, 20 0156 F]
- ALF grant from Region Stockholm [20200638]
- Cancer Research Funds of Radiumhemmet [194092]
- Krapperup Foundation
- LMK Foundation
- ALF grant from Region Skane and regional grant (FOU) from Region Skane
- S.R. Gorthon Foundation
This study evaluated CDKN2A testing conducted in Sweden from 2015 to 2020, revealing that families with PVs in the CDKN2A gene had higher rates of melanoma and pancreatic cancer. Additionally, families with CDKN2A PVs had significantly higher mortality rates among melanoma cases.
Background: Inherited pathogenic variants (PVs) in the CDKN2A gene are among the strongest known risk factors for cutaneous melanoma. Carriers are at high risks to develop multiple primary melanomas and other cancers, in particular pancreatic cancer. In this study, the CDKN2A testing, carried out in Sweden in the years 2015-2020, was evaluated. Materials and methods: Included families had (1) three or more cases of melanoma and/or pancreatic cancer, (2) two melanomas in first-degree relatives, the youngest case <55 years or (3) individuals with three or more multiple primary melanomas, the first before the age of 55 years, and no other affected family members. The included families had at least one affected member that had been tested for CDKN2A PVs. Results: In total, 403 families were included, whereof 913 family members had been diagnosed with cutaneous melanoma and 129 with pancreatic cancer, 33 (8.2%) were found to have PVs in CDKN2A. Frequencies ranged from 0.9% in families with only two melanomas to 43.2% in families with three or more melanoma cases and pancreatic cancer (p < 0.001). The frequency of PVs ranged from 2.1% to 16.5% in families where the youngest case was >= 55 years or <35 years (p = 0.040). In families with or without CDKN2A PVs, 37.6% and 10.0% had melanoma cases that had died from melanoma, respectively (p < 0.001). Discussion: Significant differences were seen in the frequencies of CDKN2A PVs, dependent on numbers or age at diagnosis of melanomas and diagnoses of pancreatic cancers in the family. Further, melanoma cases belonging to families that tested positive for CDKN2A PVs had a significantly higher mortality. To summarize, the current evaluation shows that, with adequately selected criteria to guide genetic testing, CDKN2A PVs are identified at significant frequencies. Identification of carrier families is of importance to ensure that members are enrolled in a preventive surveillance program.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据