Genetic testing: the bigger picture.
نویسندگان
چکیده
In each of the four cases presented, a deleterious mutation was identified. However, in clinical practice, the majority of germline genetic testing results are “uninformative negative,” even among individuals who have personal and/or family histories that are highly suggestive of a cancer predisposition syndrome.[1,2] In other words, comprehensive testing (eg, full-sequence and large rearrangement analysis of a specific gene or genes) is not 100% sensitive and does not detect every possible mutation. Thus, the absence of a deleterious mutation in a proband (ie, the first individual in a family to be tested) may occur because a mutation was missed by the testing method(s), because a highly penetrant mutation exists in another gene, or because the individual does not have a mutation that is present in the family but not yet identified. There may also be combinations of genetic factors (eg, due to several single nucleotide polymorphisms) that are acting in concert to contribute to elevated cancer risks within a family. Determining which of these possible explanations is most likely to account for the absence of a deleterious mutation in a proband is extremely difficult, if not impossible.
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عنوان ژورنال:
- Oncology
دوره 26 5 شماره
صفحات -
تاریخ انتشار 2012