ISBN-10: 0750908688 Spontaneous mutations account for about 33% of all haemophilia A and 20% of all haemophilia B cases.
A particular mutation in CCM1 (the Q455X mutation), accounts for a cluster of cases in the Southwestern United States.
Spontaneous mutations account for about 30% of cases.
These mutations account for up to 90% of the total genetic influence with a risk of breast cancer of 60-80% in those affected.
However, mutations in these genes account for only 2 to 3 percent of all breast cancers.
The inherited mutation probably accounts for no more than 3 percent of prostate cancer cases, the researchers estimate.
Genetic mutations account for approximately 7% and 14% of breast and ovarian cancer, respectively, and BRCA1 and BRCA2 account for 80% of these cases.
Common mutations in the RET oncogene may also account for medullary sponge kidney as well.
These three mutations account for over 95% of cases: the 11778 mutation accounts for 50-70% of cases, the 14484 mutation for 10-15% and the 3460 mutation for 8-25%.
But in southern Europe, the extreme mutation accounted for less than half the observed defects.