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A consistent pattern among these newly classified predispositions is that they are always present at very-low frequencies in the given disease population [ 5- 10].
In addition, the predisposition of ovary granulosa cell carcinoma for Connexin 43 deficiency had a consistent literature basement, and the authors suggest further studies to correlate both in vivo in a more specific carcinogenic model for this kind of tumor.
A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the "rhabdoid tumor predisposition syndrome" and the outcome is worst in infant syndromic ATRT patients.
Notably, a consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the so called "rhabdoid tumor predisposition syndrome" [ 5, 6].
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