An unexpected find


In Siberia, a girl was born in a family with a mild heart defect, multiple mild external anomalies (such as facial asymmetry, etc.), small features of the behavior (closed) and delayed speech development. The heart defect was successfully operated on. The girl is actively engaged with a speech therapist, there is an improvement on the background of classes. The geneticist recommended the study of the complete genome. Mom applied to the foundation and a decision was made to fund the study. The result of the study fully explained all of the girl's disorders. However, the report pointed to an incidental additional finding: a known gene breakdown described in databases was identified, leading to a high risk of developing breast and ovarian cancer. Since the girl has every chance of good socialization and a long life, and also considering that breast and ovarian cancer is well treated in the early stages and radical surgical treatment is possible, knowledge about this finding will allow the mother and the girl herself to be regularly monitored and examined by a specialist-oncologist, in time to identify the onset of the disease (provided that it occurs at all) and receive timely treatment in order to recover.

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