Incidental / Secondary Findings

By sequencing all genes (exome/genome sequencing), we might find disease-causing mutations in genes unrelated to the patient’s actual phenotype, which may cause severe health problems (e.g., mutations causing susceptibility to cancer or certain heart diseases). These are called incidental findings (or secondary findings). For example, we might find a breast cancer-predisposing mutation in a patient tested for thoracic aortic aneurysm (e.g., a BRCA1 mutation). If the patient has previously given consent, the breast-cancer mutation will also be reported in such a case. Incidental findings are relatively infrequent, as they may be detected in just 1-3% of patients. It should be reminded that an incidental finding may be of relevance also for the patient’s consanguineous (e.g., parents and siblings), as they may carry the same genetic variant.

The American College of Medical Genetics has issued a list of genes for which incidental findings should be reported. The last update includes the following genes:

Clinical conditionsTypical on setGeneTransmission
Familial adenomatous polyposisInfancy/adultAPCAD
Familial medullary thyroid cancerInfancy/adultRETAD
Hereditary breast and/or ovarian cancerAdultBRCA1, BRCA2, PALB2AD
Hereditary paraganglioma–pheochromocytoma syndromeInfancy/adultSDHD, SDHAF2, SDHC, SDHB, MAX, TMEM217AD
Juvenile polyposis syndromeInfancyBMPR1A, SMAD4AD
Li–Fraumeni syndromeInfancy/adultTP53AD
Lynch syndromeAdultMLH1, MSH2, MSH6, PMS2AD
Multiple endocrine neoplasia type 1Infancy/adultMEN1AD
MUTYH-associated polyposisAdultMUTYHAR
Neurofibromatosis type 2Infancy/adultNF2AD
Peutz–Jeghers syndromeInfancy/adultSTK11AD
PTEN hamartoma tumor syndromeInfancy/adultPTENAD
RetinoblastomaInfancyRB1AD
Tuberous sclerosis complexInfancyTSC1, TSC2AD
von Hippel–Lindau syndromeInfancy/adultVHLAD
WT1-related Wilms tumorInfancyWT1AD
AortopathiesInfancy/adultFBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11AD
Arrhythmogenic right ventricular cardiomyopathyInfancy/adultPKP2, DSP, DSC2, TMEM43, DGS2AD
Catecholaminergic polymorphic ventricular tachycardiaInfancy/adultRYR2, CASQ2, TRDNAD, AR
Dilated cardiomyopathyInfancy/adultTNNT2, LMNA, FLNC, TTNAD
Ehlers–Danlos syndrome, vascular typeInfancy/adultCOL3A1AD
Familial hypercholesterolemiaInfancy/adultLDLR, APOB, PCSK9AD
Hypertrophic cardiomyopathyInfancy/adultMYH7, MYBPC3, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, MYL2AD
Long QT syndrome types 1 and 2Infancy/adultKCNQ1, KCNH2AD
Long QT syndrome 3; Brugada syndromeInfancy/adultSCN5AAD
Biotinidase deficiencyInfancyBTDAR
Fabry diseaseInfancy/adultGLAXL
Ornithine transcarbamylase deficiencyInfancy/adultOTCXL
Pompe diseaseInfancy/adultGAAAR
HemochromatosisAdultHFEAR
Hereditary hemorrhagic telangiectasiaInfancy/adultACVRL1, ENGAD
Malignant hyperthermiaInfancy/adultRYR1, CACNA1SAD
Maturity-onset diabetes of the youngInfancy/adultHNF1AAD
RPE65-related retinopathyInfancyRPE65AR
Wilson diseaseInfancy/adultATP7BAR
Notes: AD: Autosomal Dominant; AR: Autosomal Recessive; XL: X-Linked

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