Signs and genetics of rare cancer syndromes with gastroenterological features

Table 1 Main features of rare hereditary cancer syndromes with gastroenterological signs

Syndrome	Gene(s)/locus	Inheritance	Main associated neoplasias	Gastroenterological signs
BWS	11p15	Imprinting, UPD, other	Wilms tumor, rhabdomyosarcoma, neuroblastoma, adrenocortical carcinoma	Abdominal wall defects, visceromegaly, hepatoblastoma
Bloom	BLM/RECQL3 (15q26.1)	AR	Cancers common in general population, but presenting at an earlier ages	GERD, colon cancer
Carney complex	PRKAR1A (17q24.2) Others?	AD	Myxomas, breast ductal adenomas, LCCSCT	Colon polyps and cancer, pancreatic cancer
HHT	1-ENG (9q34​.11)	AD	Juvenile polyposis if correlated to SMAD4 mutations	GEP arteriovenous malformations
	2-ACVRL1 (12q13​.13)
	3-5q31.3-q32
	4-7p14
	5-GDF2 (10q11​.22)
	JP/HHT-SMAD4 (18q21.2)
MEN1	MEN1 (11q13)	AD	Parathyroid adenomas, pituitary tumors, NET of the GEP tract	Carcinoids, Zollinger-Ellison syndrome
NBCCS	PTCH1 (9q22.3)	AD	Basal cell carcinomas	Lymphomesenteric cysts
	SUFU (10q24-q25)
VHL	VHL (3p25.3)	AD	Hemangioblastomas, CCRC, pheochromocytoma,	Pancreatic and hepatic cysts, PNETs

UPD: Uniparental parental disomy; AD: Autosomal dominant; AR: Autosomal recessive; BWS: Beckwith-Wiedemann syndrome; CCRCC: Clear cell renal cell carcinoma; GEP: Gastroenteropancreatic; GERD: Gastroesophageal reflux disease; HHT: Hereditary hemorrhagic telangiectasia; LCCSCT: Large cell calcifying Sertoli cell tumor; MEN1: Multiple endocrine neoplasia type 1; NBCCS: Nevoid basal cell carcinoma syndrome; NET: Neuroendocrine tumor; PNETs: Pancreatic neuroendocrine tumors; VHL: von Hippel-Lindau.