Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.

ABSTRACT:

Background

Myeloid neoplasms, including acute myeloid leukemia, have been traditionally among the less investigated cancer types concerning germline predisposition. Indeed, myeloid neoplasms with germline predisposition are challenging to identify because often display similar clinical and morphological characteristics of sporadic cases and have similar age at diagnosis. However, a misidentifications of familiarity in myeloid neoplasms have a critical impact on clinical management both for the carriers and their relatives.

Aims

We conducted a family segregation study, in order to identify novel cancer predisposing genes in myeloid neoplasms and classify novel identified variants.

Methods and results

We performed a thorough genomic analysis using a large custom gene pa

SUBMITTER: Ronchini C 

PROVIDER: S-EPMC11310090 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature