Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
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DOI: 10.1080/14737159.2022.2049247
Abstract: ABSTRACT Introduction Hereditary cancer predisposition syndromes are caused by germline pathogenic or likely pathogenic variants in cancer predisposition genes (CPG). The majority of pathogenic variants in CPGs are point mutations, but large gene rearrangements (LGRs)… read more here.
Keywords: occurrence large; comprehensive molecular; large genomic; genomic rearrangements ... See more keywords