Characteristics of Lynch syndrome in 13 Hispanic Families

Table 1

	Country of Origin**	1^st Cancer Diagnosis		2^nd Cancer Diagnosis		Family History Classification	IHC-Proteins unexpressed	Gene Analysis
			Age		Age			Gene
1	ES	Cecal	37	Transverse	37	Amsterdam I	hMLH1/hPMS2	MLH1	S698X
2	GU	Sigmoid	34			Amsterdam I	hMSH2/hMSH6	MSH2	S142X
3	MX	Sigmoid	33			Amsterdam I		MLH1	1105insT+
4	MX	Gastric	31	Rectal	32	Amsterdam I		MLH1	R226X
5	MX	Uterine	48			Amsterdam II	hMLH1/hPMS2	MLH1	Q409X
6	MX	Cecal	47	Descendng	47	Bethesda	hMLH1/hPMS2	Declined
7	GU	Cecal	45			Bethesda	hMLH1/hPMS2	MLH1	ICS3-2A>G+
8	MX	Sigmoid	40			Bethesda	hMHS2/hMSH6	None detected¹
9	MX	Cecal	36			Bethesda	hMSH2/hMSH6	MSH2	Q593X
10	ES	Cecal	31			Bethesda	hMLH1/hPMS2	MLH1	K618del
11	MX	Transverse	45	RCC-clear cell	45	Bethesda	hMLH1/hPMS2	MLH1	del exon 2-3
12	MX	Splenic Flexure	32			Bethesda	Pending	MSH2	2179delCinsAG+
13*	MX	Cecal	44			Bethesda	hMSH2/hMSH6	MSH2	Q76X
14*	MX	Gastric	37	Cecal	47	Bethesda	hMSH2/hMSH6	Declined

*Individuals 13 and 14 are brothers; **MX=Mexico; ES=El Salvador; GU=Guatemala
¹MLH1 and MSH6 sequencing (MSH6 VUS 4071ins4), MSH2/MLH1 rearrangement studies
+not reported in Leiden Variation Open Database or the Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff

ISSN: 1897-4287