Approximately 10% of epithelial ovarian tumours are hereditary, with BRCA mutations being responsible for the majority of cases [ 11, 27, 28].
Some deficiencies are hereditary and result from genetic mutations that are passed from parent to child.
Of the estimated 175,000 new cases of invasive breast cancer diagnosed each year in women in the United States, 5percentto10percentcent are hereditary, including the cases caused by BRCA mutations.
Spider veins are hereditary.
These two mutations are implicated in hereditary hemochromatosis among Caucasians.
In addition, the αB-crystallin R157H mutation has been linked to cardiomyopathy [23], while the P20S, D140N, and 450delA mutations are associated with hereditary human cataracts [24] [26].
These point mutations are associated with hereditary diseases ranging from almost pure cerebral amyloid angiopathy (CAA) to typical Alzheimer's disease pathology with plaques and tangles.
A number of missense mutations are found in hereditary prostate cancer (HPC) families as: G59S, I97L, I220V, S406F, R462Q, Y529C and D541E, no mis- or nonsense mutations have been found in the ribonuclease domain.
In humans, SALL mutations are associated with hereditary syndromes characterized by mental retardation, sensorineural deafness and motoneuron problems, among others.
Somatic mutations in protein kinases (PKs) are frequent driver events in many human tumor types and functionally relevant germ-line mutations are associated with hereditary disorders.
