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. 2023 Apr 30;14(5):1025. doi: 10.3390/genes14051025

Table 2.

List of malign and benign features of hereditary cancer syndromes. HCS = hereditary cancer syndrome. Blue boxes identify a typical features of that syndrome; black box identify features that are commonly associated with that syndrome; gray box identify features that rarely associated with that syndromes or the association is weakly supported by the literature. The readers can find the benign/malign phenotype of a patient/family in the table to better hypothesize the underlying HCS. Sources: GeneReview, UptoDate, Omim, EviQ Genetics.

HPPS CNC NF1 NF2 SCHW MEN 1 MEN2A MEN2B FMTC MEN4 HPT-
JT
PC HOXB13 NBN NBS VHLS HPRC HLRCC TSC BHD LF BSyn fGIST BRCA1/2 CHEK2 PALB2 RAD51C RAD51D ATM (Heterozygosis) AT STK11 BARD1 BRIP1 FANCONI
ANEMIA
FAMM NBCC XP BAP1 Shelterin TERT MC1R MITF DICER1 LS RPS20 FAP AFAP GAPPS PPAP MAP NTHL1 MSH3 MLH3 JPS HMPS RNF43 CS HDGC HP HE EGFR
HCS-associated cancers
Esophagus/Stomach
Small bowel
Colon/Rectum
Anus
Pancreas
Liver
Biliary tract
Breast
Ovary
Endometrium
Cervix
Vulva/Vagina
Prostate
Testicles
Penis
Kidney
Bladder/Urothelial
Melanoma
Skin (non-melanoma)
Lung
Mesothelium
Head & neck
Sarcoma
GIST
Neuroendocrine
Pheocromocytoma/Paraganglioma
Adrenal
Thyroid
Parathyroid
Nervous system
Lymphoma
Leukemia
Thymus
Parotid
Endolymphatic sac tumors
Choriocarcinoma
HCS-associated benign features
Eyes
Nose
Mouth
Esophagus/Stomach
Small bowel
Colon/Rectum
Biliary tract
Pancreas
Kidney
Bladder/Urothelium
Breast
Testicular
Gynecological
Skin/Soft tissue
Lung
Skeleton
Adrenal
Thyroid
Parathyroid adenoma
Pituitary gland
Nervous system
Cognitive alterations
Heart
Facies/Habitus
Blood
Blood vessels
Thymus
Parotid
Liver
Immune system
Endocrine dysfunction