A case of multiple basal cell carcinomas in a patient with MUTYH gene mutation.
作者信息
Madden Christopher, D'Angelo Josephine, Blackcloud Paul
机构信息
The State University of New York Downstate College of Medicine, Brooklyn, New York.
Department of Dermatology, University of Rochester, Rochester, New York.
出版信息
JAAD Case Rep. 2025 Mar 11;59:85-86. doi: 10.1016/j.jdcr.2025.02.025. eCollection 2025 May.
Abstract
摘要
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本文引用的文献
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Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology.遗传/家族性高危评估：结直肠癌、子宫内膜癌和胃癌，第3.2024版，美国国立综合癌症网络（NCCN）肿瘤学临床实践指南
J Natl Compr Canc Netw. 2024 Dec;22(10):695-711. doi: 10.6004/jnccn.2024.0061.
2
Genetic Complexity in Recurrent Basal Cell Carcinoma: A MUTYH Variant Case Report.复发性基底细胞癌的遗传复杂性：一例MUTYH变异病例报告。
Cureus. 2024 Mar 6;16(3):e55677. doi: 10.7759/cureus.55677. eCollection 2024 Mar.
3
Multiple basal cell carcinomas revealing a biallelic MUTYH gene mutation in a 39-year-old male patient.一名39岁男性患者出现多个基底细胞癌，检测发现其MUTYH基因存在双等位基因突变。
J Eur Acad Dermatol Venereol. 2023 Mar;37(3):e327-e329. doi: 10.1111/jdv.18592. Epub 2022 Oct 1.
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Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.基底细胞癌的分子遗传学综述：遗传易感性、体细胞突变与靶向治疗
Cancers (Basel). 2021 Jul 31;13(15):3870. doi: 10.3390/cancers13153870.
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Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.频繁发生基底细胞癌是遗传性癌症易感性的临床标志物。
JCI Insight. 2018 Aug 9;3(15). doi: 10.1172/jci.insight.122744.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.ACG 临床指南：遗传性胃肠道癌综合征的基因检测与管理。
Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3.
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Gastroenterology. 2009 Dec;137(6):1976-85.e1-10. doi: 10.1053/j.gastro.2009.08.052. Epub 2009 Sep 2.
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