Of the first 70 people who underwent genome sequencing, 12 had pathogenic mutations that are clinically actionable, including mutations in BRCA1, which is associated with breast and ovarian cancer; APC and MUTYH, which are associated with colon cancer; SHBD, which is associated with a high frequency of neuroendocrine tumors; and RBM20
, which is associated with dilated cardiomyopathy.
Did the authors exclude mutations in nDNA-located genes which have been shown to cause dCMP, such as MYH7 , MYBPC3 , LMNA , TNNI3 , TNNT2 , ACTC1 , TPM1 , SCN5A , MYL2 , MYH6 , MYL3 , PLEKHM2 , HAND1 , RBM20
, FBXO32 , DES , YBPC3 , MYPN , and PRKAG2 ?[sup] Arguments against the m.8701A>G variant as being causative are that the variant has not been reported as pathogenic, was homoplasmic, that no biochemical defect was demonstrated neither in skeletal muscle nor in skin fibroblasts, that the heteroplasmy rate was not tested in tissues other than lymphocytes, that a maternal trait is not the only possible transmission, that no other organs except the myocardium were affected, and that the variant occurred also in a subject of the control group.