Mutation spectrum in South American Lynch syndrome families

Mev Dominguez-Valentin; Mef Nilbert; Patrik Wernhoff; Francisco López-Köstner; Carlos Vaccaro; Carlos Sarroca; Edenir Ines Palmero; Alejandro Giraldo; Patricia Ashton-Prolla; Karin Alvarez; Alejandra Ferro; Florencia Neffa; Junea Caris; Dirce M Carraro; Benedito M Rossi

doi:10.1186/1897-4287-11-18

Table 2 Spectrum of alterations in South American Lynch syndrome families

From: Mutation spectrum in South American Lynch syndrome families

Gene	Nucleotide	Consequence	Exon	Reported as	Country	Number of families	References
MLH1	c.1-?_116 + ?del	p.M1_C39 > FfsX13	1	Causal	Chile	2	InSIGHT
	c.199G > A	p.G67R	2	Causal	Argentina	1	InSIGHT
	c.211G > T	p.E71X	3	Causal	Brazil	1	InSIGHT
	c.289 T > G	p.Y97D	3	VUS	Uruguay	1	InSIGHT
	C.336 T > A	p.H112Q	4	VUS	Argentina	1	InSIGHT
	c.350C > T	p.T117M	4	Causal	Uruguay	2	InSIGHT
	c.421C > G	p.P141A	5	VUS	Colombia	1	Giraldo et al. 2005 [2]
	c.503dupA	p.N168KfsX4	6	Causal	Chile	1	InSIGHT
	c.503delA^a	p.N168IfsX34	6	Causal	Brazil	1	Not previously described
	c.545 + 3A > G		6	Causal	Brazil	2	InSIGHT
	c.588 + 2 T > A^a		7	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.588 + 5G > C		7	Causal	Brazil	1	InSIGHT
	c.665delA	p.N222MfsX7	8	Causal	Uruguay	2	InSIGHT
	c.676C > T	p.R226X	8	Causal	Argentina	1	InSIGHT
	c.677G > A	p.R226Q	8	Causal	Argentina, Brazil	3	InSIGHT
	c.677 + 5G > A		8	Likely causal	Chile	1	French MMR network
	c.779 T > G	p.L260R	9	Causal	Brazil	1	InSIGHT
	c.790 + 1G > A		9	Causal	Chile, Colombia	3	InSIGHT
	c.791-6_793delgtttagATC^a		10	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.794G > C	p.R265P	10	VUS	Chile	1	InSIGHT
	c.901C > T	p.Q301X	11	Causal	Chile	1	InSIGHT
	c.1013A > G^a	p.N338S	11	VUS	Brazil	1	InSIGHT
	c.1038 + 1G > T^a	p.Y347FfsX13	11	Causal	Chile	1	Wielandt et al. 2012
	c.1039-8T_1558?896Tdup^a	p.520Vfs564X	12 to 13	Causal	Colombia	2	Alonso-Espinaco et al. 2011 [11]
	c.1276C > T	p.Q426X	12	Causal	Brazil	3	InSIGHT
	c.1459C > T	p.R487X	13	Causal	Brazil	1	InSIGHT
	c.1499_1501delTCA^a	p.I500del	13	Causal	Brazil	1	Rossi et al. 2002 [5]
	c.1558 + 1G > T		13	Causal	Brazil	1	InSIGHT
	c.1558 + 14G > A		13	VUS	Colombia	2	InSIGHT
	c.1559-2A > C		13	Causal	Chile	1	InSIGHT
	c.1559-?_1731 + ?del	p.V520_S577 > GfsX7^b	14 -15	Causal	Chile	1	Wielandt et al. 2012
	c.1639_1643dup TTATA^a	p.L549YfsX44	14	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.1690_1693delCTCA	p.L564FfsX26	15	Causal	Brazil	1	InSIGHT
	c.1724G > A	p.R575K	15	VUS	Argentina	1	InSIGHT
	c.1731 + 3A > T^a	Skipping exon 15	15	Causal	Chile	1	Alvarez et al. 2010 [6]
	c.1846delAAG	p.K616del	16	Causal	Argentina	1	InSIGHT
	c.1852_1853delinsGC	p.K618A	16	Causal	Argentina	1	InSIGHT
	c.1852_1854 delAAG	p.K618del	16	Causal	Argentina	1	InSIGHT
	c.1853A > C	p.K618T	16	VUS	Brazil	1	InSIGHT
	c.1853delAinsTTCTT^a	p.K618IfsX4	16	Causal	Brazil	2	Valentin et al. 2011 [3]
	c.1856delG^a		16	Causal	Colombia	2	Giraldo et al. 2005 [2]
	c.1890dup^a	p.D631fsX1	16	Causal	Argentina	1	Valentin et al. 2011 [3]
	c.1897-?_1989 + ?del^a		17-19	Causal	Brazil	1	Not previously described
	c.1918C > T	p.P640T	17	VUS	Colombia	1	InSIGHT
	c.1975C > T	p.R659X	17	Causal	Brazil	1	InSIGHT
	c.1998G > A	p.W666X	18	Causal	Brazil	1	Rossi et al. 2012 [5]
	c.2027 T > C	p.L676P	18	Causal	Brazil	1	InSIGHT
	c.2041G > A	p.A681T	18	Likely causal	Chile, Brazil, Colombia	4	French MMR network
	c.2092_2093delTC	p.S698RfsX5	18	Causal	Chile	1	Alvarez et al. 2010 [6]
	c.2224C > T^a	p.Q742X	19	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.2252_2253dupAA	p.V752KfsX26	19	VUS	Brazil	1	InSIGHT
	c.2104-?_2271 + ?del^b	p.S702_X757del	19	Causal	Chile	2	Wielandt et al. 2012
MSH2	c.71delA^a	p.Q24fs	1	Causal	Brazil	1	Not previously described
	c.166G > T^a	p.E56X	1	Causal	Argentina	1	InSIGHT
	c.174dupC^a		1	Causal	Brazil	1	Not previously described
	c.175dupC^a	p.K59QfsX23	1	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.181C > T^a	p.Q61X	1	Causal	Uruguay	1	Sarroca et al. 2003
	c.187delG	p.V63fsX1	1	Causal	Brazil	1	InSIGHT
	c.289C > T	p.Q97X	2	Causal	Argentina	1	InSIGHT
	c.212-?_366 + ?del	p.A72_K122 > FfsX9	2	Causal	Chile	1	InSIGHT
	c.388_389delCA	p.Q130VfsX2	3	Causal	Brazil, Argentina	2	InSIGHT
	c.530_531delAA^a	p.E177fsX3	3	Causal	Uruguay	1	Sarroca et al. 2003
	c.596delTG^a		3	Causal	Colombia	1	Giraldo et al. 2005 [2]
	c.862C > T	p.Q287X	5	Causal	Brazil	1	InSIGHT
	c.897 T > G	p.Y299X	5	Causal	Chile	1	Wielandt et al. 2012
	c.942 + 3 A > T		5	Causal	Brazil	1	InSIGHT
	c.1077-?_1276 + ?del	p.L360KfsX16	7	Causal	Argentina	1	InSIGHT
	c.1147C > T	p.R382X	7	Causal	Brazil	1	InSIGHT
	c.1215C > A	p.Y405X	7	Causal	Chile	1	InSIGHT
	c.1216C > T	p.R406X	7	Causal	Uruguay	1	InSIGHT
	c.1249delG	p.V417LfsX21	7	Causal	Brazil	1	InSIGHT
	c.1255C > T	p.Q419X	7	Causal	Brazil	1	InSIGHT
	c.1444A > T^a	p.R482X	9	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.1447G > T	p.E483X	9	Causal	Brazil	2	InSIGHT
	c.1667delT^a	p.L556X	11	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.1667_1668insA^a	p.T557DfsX5	11	Causal	Brazil	1	Rossi et al. 2002 [5]
	c.1910delC^a	p.R638GfsX47	12	Causal	Argentina	1	Vaccaro et al. 2007
	c.1967_1970dupACTT^a	p.F657LfsX3	12	Causal	Brazil	1	Valentin et al. 2011 [3]
	c.2038C > T	p.R680X	13	Causal	Chile	1	InSIGHT
	c.2046_2047delTG^a	p.V684Dfs*14	13	Causal	Argentina	1	InSIGHT
	c.2131C > T	p.R711X	13	Causal	Brazil	1	InSIGHT
	c.2152C > T	p.Q718X	13	Causal	Brazil	6	InSIGHT
	c.2185_2192del7insCCCT^a	p.M729_E731delinsP729_X730	13	Causal	Chile	1	Alvarez et al. 2010 [6]
	c.2187G > T^a	p.M729I	13	VUS	Brazil	1	Valentin et al. 2011 [3]
	c.2525_2526delAG^a	p.E842VfsX3	15	Causal	Brazil	2	Valentin et al. 2011 [3]
	c.2785C > T^a	p.R929X	16	Causal	Brazil	1	Valentin et al. 2011 [3]

^aFirst reported, VUS variants of unclassified significance, MLH1 (MIM#120436), MSH2 (MIM#609309),^bpathogenecity demonstration ongoing.

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Table 2 Spectrum of alterations in South American Lynch syndrome families

Hereditary Cancer in Clinical Practice

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