Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.
Lindsay M KipnisKatelyn M BreenDiane R KoellerAlison Schwartz LevineZelei YangHyeji JunNabihah TayobSamantha M StokesConnor P HayesArezou A GhazaniSarah J HillHuma Q RanaPublished in: Cancer prevention research (Philadelphia, Pa.) (2024)
Women diagnosed with fumarate hydratase (FH)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of FH-deficient uterine leiomyomata in the absence of germline FH pathogenic/likely pathogenic variants is needed.
Keyphrases
- copy number
- end stage renal disease
- ejection fraction
- dna repair
- newly diagnosed
- chronic kidney disease
- primary care
- prognostic factors
- polycystic ovary syndrome
- genome wide
- type diabetes
- squamous cell carcinoma
- gene expression
- smoking cessation
- squamous cell
- skeletal muscle
- young adults
- insulin resistance
- hepatitis c virus