Genetic alterations in pancreatic cancer

Table 1 The most important pancreatic-prone syndromes

Syndrome	Mutation	Inheritance	Manifestations
Familial atypical mole-malignant melanoma syndrome	CDKN2A	AD	Multiple atypical nevi Malignant melanoma
(FAMMM)			Extracutaneous cancers
Hereditary pancreatitis	PRSS1	AD	Relapsing pancreatitis
	Kazal type 1 (SPINK1)		Young age of onset
			Associated pancreatic insufficiency, diabetes and pseudocysts
Hereditary non-polyposis colon cancer (Lynch II)	HMSH2, HMLH1, HPMS2, p16 BRCA2	AD	Adenocarcinoma of the colon and extracolonic adenocarcinomas (endometrium, ovary)
Familial adenomatous polyposis	APS	AD	Innumerable colonic polyps with highly possible malignant transformation
Ataxia-telangiectasia	ATM	AR	Progressive cerebral ataxia, telangiectasias, sinopulmonary infections, oculomotor apraxia, immune deficiencies, 3-fold operative risk for PC
Li-Fraumeni	p53	AD	Predisposition to several neoplasms
Peutz-Jeghers	LKB1/STK11	AD	Multiple oromucosal and intestinal hamartomas