Table 3. Performance of BRAF and somatic MLH1 hypemethylation analyses in the identification of LS cases in studies that use both parameters.

								BRAF somatic analysis				MLH1 hypermethylation analysis
	Population	N	Inclusion criteria	LS	MLH1 LS	MMR analyzed in non-LS	Tissue	Method	Preval	Sensit	Specif	Method	Preval	Sensit	Specif
Deng et al (2004)	Multicenter	42	MSI	6	13	No	FFPE	Seq	14/42	6/6	14/29	Bisulfite Seq	13/35	2/6	13/29
									33%	100%	48%		31%	33%	45%
Lubomierski et al (2005)	Single Center	44	MSI	5	12	No	FFPE	Seq	7/44	5/5	7/32	MSP	18/20	1/4	15/16
									16%	100%	22%	(A/C)	90%	25%	94%
Julié et al (2008)	Single center	21	MSI	2	8	Yes	FFPE	Seq	6/21	2/2	6/13
									29%	100%	46%
		13	MLH1–	2					6/13	2/2	6/11	COBRA	10/13	2/2	10/11
									46%	100%	55%	(C/D)	77%	100%	91%
Perez-Carbonell et al (2010)	Multicenter	73	MLH1–	10	10	Yes	FFPE	TaqMan	25/73	10/10	25/63	Methylight	47/73	10/10	47/63
									34%	100%	40%		64%	100%	75%
												MS-MLPA	49/73	10/10	49/63
												(C)	67%	100%	78%
Bouzourene et al (2010)	Single center	27	MSI MLH1–	16	16	Yes	FFPE	Seq	8/27	16/16	8/11	MS-SSCA	12/27	15/16	11/11
									30%	100%	73%	(C)	44%	94%	100%
This study	Genetic Counseling Unit	122	MSI	57	40	Yes	FFPE	SNuPE	14/122	56/57	13/65
									11%	98%	20%
									14/122a	39/40a	13/65a
									11%	98%	20%
		71	MLH1–		24				14/71	23/24	13/47	MS-MLPA	32/71	23/24	31/47
									20%	96%	28%	(C/D)	42%	96%	66%

Abbreviation: LS, Lynch syndrome.

^aBRAF mutation analysis taken into account only MLH1 germline mutation carriers.

Nagasaka study 27 has been omitted in the table as MLH1– population is not specified.

MLH1–, loss of expression of MLH1.

A, B, C and D. MLH1 promoter regions according to Deng.³⁶

Sensitivity and specificity have been analyzed based on MLH1 germline mutation carriers.