Genetic predisposition to pancreatic cancer

Table 2 Role of CDKN2A mutations in familial pancreatic adenocarcinoma and melanoma pancreatic-cancer syndrome

Study1	N° of FPC families	CDKN2A mutation found	Type of CDKN2A mutations	% of CDKN2A positive	N° of MPCS	CDKN2A mutation found	% of CDKN2A positive	Type of CDKN2A mutations
Slater et al[61] 2010; Bartsch et al[79] 2002	56	0	-	-	5	2	40	p.Q50X,
								p.E119X
McWilliams et al[80] 2010	119	3	c.-34G>T,p.V95fs,	2.5	39	2	5.3	p.D153spl,
			p.D153spl,					pL16R
Ghiorzo et al[42] 2012	16	5	p.E27X,p.G67R,	31	5	2	40	p.L65P,
			p.G101W,					p.G101W
			c. 201ACTC>CTTT
2Harinck et al[64] 2012	24	3	p.Ser8fs,	12	4	3	75	p.Ala76fs
			p.Ala76fs

¹This table only includes studies that analyze CDKN2A mutations in pancreatic adenocarcinoma (PC) probands from familial PC (FPC) families comparing them with PC probands from Melanoma pancreatic-cancer syndrome (MPCS) families belonging to the same population. The prevalence of CDKN2A mutations in MPCS/FAMMM-PC e families, as analyzed in melanoma probands, is described in the text.

²A melanoma was diagnosed in one FPC family after the proband was found to carry a mutation in CDKN2A.