Ambry Genetics Corp, Aliso Viejo, California, USA
Inova Primary Care, Falls Church, Virginia, USA.
BMJ Case Rep. 2022 Apr 29;15(4):e249580. doi: 10.1136/bcr-2022-249580.
Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, improve variant classification and reduce variants of uncertain significance. Here, we describe two cases where RNA sequencing uncovered likely pathogenic variants in families with MMRd tumours that were initially unexplained following comprehensive genetic testing for Lynch syndrome.
尽管在林奇综合征的基因检测方面取得了进展，但近四分之一的错配修复缺陷（MMRd）结直肠癌和子宫内膜癌仍然无法解释。当与种系 DNA 检测联合使用时，RNA 测序可以提高诊断产量，改善变异分类，并减少意义不明的变异。在这里，我们描述了两个案例，在对林奇综合征进行全面基因检测后最初无法解释的 MMRd 肿瘤家族中，RNA 测序发现了可能的致病性变异。
