Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

Fernández-Lopez, J. C.; Romero-Córdoba, S.; Rebollar-Vega, R.; Alfaro-Ruiz, L. A.; Jiménez-Morales, S.; Beltrán-Anaya, F.; Arellano-Llamas, R.; Cedro-Tanda, A.; Rios-Romero, M.; Ramirez-Florencio, M.; Bautista-Piña, V.; Dominguez-Reyes, C.; Villegas-Carlos, F.; Tenorio-Torres, A.; Hidalgo-Miranda, A.

doi:10.1186/s40246-018-0188-9

Human Genomics

Table 1 Pathogenic mutations identified in the 3842 sample SIGMA dataset. Fifteen pathogenic mutations (4 in BRCA1 and 11 in BRCA2 were identified in our population-based analysis

From: Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

SNP	Position	Ref	Alt	Allele frequency Mexicans	Annotation	HGVS_cDNA_LOVD	Allele frequency (EXAC)	Allele frequency African	Allele frequency East Asian	Allele frequency European (Non-Finish)	Allele frequency Finnish	Allele frequency Latino	Allele frequency Other	Allele frequency South Asian	Clinical significance
BRCA1
Rs28897696	17:41215920	G	T	0.0001301	Missense	NM_007294.3:c.5123C>A	0.00002487	0	0	0.0000302	0	0.0000869	0	0	Pathogenic
Rs41293455	17:41234451	G	A	0.0001301	Stop gained	NM_007294.3:c.4327C>T	0.00001648	0	0	0	0.000151194	0.0000864	0	0	Pathogenic
Rs80357902	17:41243899	A	AT	0.0001301	Frameshift	NM_007294.3:c.3648dupA	0.000008244	0	0	0	0	0.0000867	0	0	Pathogenic
MLPA	BRCA1 ex16–17del
BRCA2
rs80359775	13:32972346	TTGTA	T	0.0007808	Frameshift	c.9699_9702del	0.00009916	0	0	0.000045	0	0.000780302	0	0	Pathogenic
Rs80359335	13:32911080	AT	A	0.0001302	Frameshift	c.2589del	0.000008311	0	0	0	0	0.0000873	0	0	Pathogenic
rs11571658	13:32914766	CTT	C	0.0001301	Frameshift	c.6275_6276del	0.00001667	0	0	0.0000151	0	0.0000865	0	0	Pathogenic
Rs587782428	13:32954260	CG	C	0.0001301	Frameshift	c.9235del	0.000008269	0	0	0	0	0.0000867	0	0	Pathogenic
rs80358494	13:32910716	C	T	0.0001301	Stop gained	c.2224C>T	0.000008254	0	0	0	0	0.000087	0	0	Pathogenic
rs80359082	13:32944584	G	A	0.0001301	Missense	c.8377G>A	0.000008237	0	0	0	0	0.0000864	0	0	Pathogenic
rs80359418	13:32890599	T	G	0.0001301	Start lost	c.2 T>G	0.000008339	0	0	0	0	0.0000867	0	0	Pathogenic
rs80359519	13:32914033	CA	C	0.0001301	Frameshift	c.5542del	0.000008279	0	0	0	0	0.0000866	0	0	Pathogenic
rs80359604	13:32903604	TGT	T	0.0001301	Frameshift	c.658_659del	0.00006119	0.000119076	0	0.0000783	0	0.000100908	0	0	Pathogenic
Rs876660636	13:32914122	AC	A	0.0001301	Frameshift	c.5631del	0.000008296	0	0	0	0	0.0000867	0	0	Pathogenic
Rs878853620	13:32972336	CT	C	0.0001301	Frameshift	c.9689del	0.000008283	0	0	0	0	0.0000868	0	0	Pathogenic

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ISSN: 1479-7364

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