Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

IF 6.1 1区医学 Q1 ONCOLOGY

Breast Cancer Research Pub Date : 2019-09-18 DOI:10.1186/s13058-019-1193-1

Felipe Batalini, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, J. Garber, J. Weitzel, N. Tung

引用次数: 49

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Li-Fraumeni综合征:不再是一种简单的诊断——解释低等位基因频率的致病变异以及种系pv、嵌合体和克隆造血之间的差异

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Breast Cancer Research 医学-肿瘤学

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期刊介绍： Breast Cancer Research is an international, peer-reviewed online journal, publishing original research, reviews, editorials and reports. Open access research articles of exceptional interest are published in all areas of biology and medicine relevant to breast cancer, including normal mammary gland biology, with special emphasis on the genetic, biochemical, and cellular basis of breast cancer. In addition to basic research, the journal publishes preclinical, translational and clinical studies with a biological basis, including Phase I and Phase II trials.