Risk of cancer in heterozygous relatives of patients with Fanconi anemia.

ABSTRACT:

Purpose

Fanconi anemia (FA) is a cancer-prone inherited bone marrow failure syndrome caused by biallelic pathogenic variants in one of >22 genes in the FA/BRCA DNA repair pathway. A major concern is whether the risk of cancer is increased in individuals with a single pathogenic FA gene variant.

Methods

We evaluated the risk of cancer in the relatives of patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome cohort. We genotyped all available relatives and determined the rates, types of cancer and the age of patients at cancer diagnosis. We calculated the observed-to-expected (O/E) cancer ratios using data from the Surveillance, Epidemiology, and End Results Program adjusted for age, sex, and birth cohort.

Results

The risk of cancer wa

SUBMITTER: McReynolds LJ 

PROVIDER: S-EPMC11848862 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature