Human genes are made up of four chemicals or nucleotides which are called adenine, cytosine, guanine and thymine. Genetic sequence of a person depends on the order of these four nucleotides. When a mutation occurs, one or a few of these nucleotides are missing or altered in a sequence.
A change in a gene so it does not work in the normal way. Mutations to the BRCA1 or BRCA2 gene put a person at greater risk for developing breast and ovarian cancer than those who do not have the mutation.
a rare defect and its relevance as a risk factor on its own remains to be elucidated, this case suggests that a complete thrombophilia laboratory workup should be performed in young patients with a first symptomatic thromboembolic onset