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BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: a novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome.

作者信息

Cavallo Francesco, Roccuzzo Gabriele, Merli Martina, Avallone Gianluca, Zocchi Lamberto, Ogliara Paola, Pasini Barbara, Quaglino Pietro, Ribero Simone

机构信息

Section of Dermatology, Department of Medical Sciences, University of Turin.

Medical Genetics Unit at the AOU Città della Salute e della Scienza di Torino.

出版信息

Melanoma Res. 2022 Oct 1;32(5):390-392. doi: 10.1097/CMR.0000000000000846. Epub 2022 Aug 31.

DOI:10.1097/CMR.0000000000000846
PMID:36045597
Abstract
摘要

相似文献

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BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: a novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome.BRCA1相关蛋白1 c.368delG突变导致多发性BAP瘤和皮肤黑色素瘤的发生：BRCA1相关蛋白肿瘤易感性综合征中的一种新型致病变异。
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引用本文的文献

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Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.黑色素瘤及相关遗传性癌症综合征中的种系非CDKN2A变异体
Diseases. 2025 Jun 9;13(6):180. doi: 10.3390/diseases13060180.
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Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.家族性黑素细胞性病变的表型和皮肤镜特征：在三级中心的一项初步研究
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