In several FUS mutation carriers, the signs of the disease were restricted to LMN damage, with little or no evidence for UMN disease (160 162).
Several younger mutation carriers had borderline or no clinical characteristics of ADPKD, while a patient that required a renal transplant at 14 y did not have the PKD2 mutation.
Late-onset colorectal cancer has been diagnosed in several other FLCN mutation carriers from our BHD cohort not included in the present study.
Several series of presymptomatic mutation carriers have been studied in order to elucidate the very early phases of monogenic AD.
Women younger than 50 years of age Women of African or Hispanic origin BRCA1 mutation carriers Several trials have suggested the sensitivity of TNBC disease to platinum-based therapy.
Mutation carriers have several hundred to several thousand copies of the (GGGGCC) hexanucleotide repeat, as compared to 30 or less copies in non-pathogenic carriers [ 16].
Several retrospective studies of affected mutation carriers identified by familial cancer risk clinics failed to demonstrate any differences in survival when women with mutations were compared with various control groups (for reviews [ 19, 20]).
Several studies of Rad51 among BRCA1 mutation carriers have found positive associations with cancer risk [ 28- 32].
The clinical presentation, histological pattern and biological behaviour of renal cancer in FLCN mutation carriers are important for several reasons.
The study examines the effect of GMCs on patient empowerment and psychological distress of BRCA mutation carriers as well as several secondary outcome measures.
