Table 6 Sex at birth and age of participants with no self-reported personal or family history and at least one P/LP findings associated inherited cancer or cardiovascular/connective tissue diseases
Disease category | Disease | Gene | Gender | Age group |
|---|---|---|---|---|
Cancer | BRIP1-related cancers | BRIP1 | M | 46–55 |
F | 66–75 | |||
CHEK2-related cancers | CHEK2 | F | 18–35 | |
F | 46–55 | |||
M | 46–55 | |||
M | 56–65 | |||
M | 56–65 | |||
F | 56–65 | |||
F | 66–75 | |||
Colorectal cancer | APC | F | 46–55 | |
M | 46–55 | |||
M | 56-65 | |||
M | 66–75 | |||
Hereditary breast and ovarian cancer syndrome | BRCA1 | M | 18–35 | |
BRCA2 | M | 36–45 | ||
Hereditary melanoma-pancreatic cancer syndrome | CDKN2A | F | 46–55 | |
M | 56–65 | |||
Lynch Syndrome | MSH6 | F | 46–55 | |
PMS2 | F | 66–75 | ||
Paraganglioma-pheochromocytoma syndrome | SDHB | M | 18–35 | |
F | 56–65 | |||
Von Hippel-Lindau syndrome | VHL | F | 76+ | |
Cardiovascular and connective tissue | Arrhythmogenic right ventricular cardiomyopathy | PKP2 | M | 18–35 |
M | 18–35 | |||
Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy | DSP | F | 36–45 | |
Familial hypercholesterolemia | APOB | M | 46–55 | |
M | 56–65 | |||
F | 56–65 | |||
LDLR | F | 36–45 | ||
F | 36–45 | |||
M | 36–45 | |||
F | 46–55 | |||
F | 56–65 | |||
M | 66–75 | |||
F | 76+ | |||
PCSK9 | F | 36–45 | ||
Hypertrophic cardiomyopathy | MYBPC3 | M | 46–55 | |
F | 56–65 | |||
Hypertrophic cardiomyopathy | MYL2 | F | 56–65 | |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy | MYH7 | M | 36–45 | |
TNNI3 | F | 36–45 | ||
Long QT syndrome type 1, Short QT syndrome | KCNQ1 | F | 56–65 | |
Long QT syndrome type 2, Short QT syndrome | KCNH2 | M | 36–45 |
