LRRK2 remains the most frequently mutated gene, even when heterozygous PARK2 mutation carriers were included in the equation.
However, the index patient and other mutation carriers were asymptomatic, highlighting potential limitations of risk assessment schemes based on ion channel data.
None of the mutation carriers were diagnosed with pulmonary fibrosis prior to 40 years of age.
In one study, 6% of prophylactically removed ovaries from BRCA1 mutation carriers were found to harbor microscopic ovarian carcinomas [11].
Specifically, female p53 mutation carriers were shown to be at greater risk for developing cancer than their male counterparts.
Ten HD mutation carriers were very mildly affected, with 4≤UHDRS≤25 (UHDRS 11.9±4.9), and were designated as early HD patients.
The three patient populations that were originally used to define MDM2 SNP309 as a modifier of tumorigenesis in p53 mutation carriers were analyzed (Table 1).
Seventy of the mutation carriers were unaffected.
Duplicate mutation carriers were included only once in the analysis.
Monoallelic (heterozygous) MUTYH mutation carriers were excluded from calculations.
Known mutation carriers were excluded from all analyses (n = 19).
