Cancer Predisposition Genes

ACMG Secondary Findings List v3.3

Gene(s) Disorder
APCFamilial adenomatous polyposis
ATMAtaxia-telangiectasia; Hereditary breast cancer
RETFamilial medullary thyroid cancer
BRCA1 BRCA2 PALB2Hereditary breast and/or ovarian cancer
SDHD SDHAF2 SDHC SDHB MAX TMEM127Hereditary paraganglioma–pheochromocytoma syndrome
BMPR1A SMAD4Juvenile polyposis syndrome
TP53Li–Fraumeni syndrome
MLH1 MSH2 MSH6 PMS2Lynch syndrome
MEN1Multiple endocrine neoplasia type 1
MUTYH*MUTYH-associated polyposis
NF2Neurofibromatosis type 2
STK11Peutz–Jeghers syndrome
PTENPTEN hamartoma tumor syndrome
RB1Retinoblastoma
TSC1 TSC2Tuberous sclerosis complex
VHLvon Hippel–Lindau syndrome
WT1WT1-related Wilms tumor
* Autosomal Recessive Gene; Predispose to cancer only if two likely pathogenic and/or pathogenic variants are identified (homozygous or compound heterozygous state).