Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Table 1 Cohort characteristics and pathogenic BRAC1 and BRAC2 mutations in early-onset breast cancer in Central and South American populations

Country	Cohort size	Inclusion criteria	Number of mutations detected		Pathogenic mutation in BC patients				Recurrent mutation (frequency %)		Large genomic rearrangements		References
			BRCA1	BRCA2	BRCA1		BRCA2		BRCA1	BRCA2	BRCA1	BRCA2
			BRCA1	BRCA2	Exon	Mutation	Exon	Mutation	BRCA1	BRCA2	BRCA1	BRCA2
Brazil	54	a) Young female patient with BC diagnosed at < 35 year of age	6	4	5	c.181T>G	11	c.2808_2811delACAA	c.5266dupC (3.7%)	ND	NS	NS	Carraro et al. [13]
					7	c.560+2T>A	11	c.2494C>T
		b) Women with a family history of BC			11	c.2405_2406delTG	11	c.4968 ins GT
					11	c.3331_3334delCAAG	11	c.5190T>A
					20	c.5266dupC
					20	c.5251C>T
Mexico	32	Early-onset BC patients (≤ 35 years) reporting no first or second-degree relatives with BC or OC	1	1	11	3587delT	11	c.519+5_519 + 8delGTAA	ND	ND	NS	NS	Ruı́z-Flores et al. [48]
Mexico	22	Early-onset BC patients (≤ 35 years) with a family history of BC	1	1	11	3587delT	11	2664InsA	ND	ND	NS	NS	Calderón-Garcidueñas et al. [49]
Mexico	810	Early-onset BC patients (≤ 40 years) reporting no first or second-degree relatives with BC or OC	6	2	9_12	c.548-?_4185+?del	10	c.1796-1800delTTTAT	c.548-?_4185+?del (0.25%)	ND		NS	Torres-Mejia et al. [50]
					11	c.2296-2297delAG	11	c.4111C>T
					11	c.2433delC
					11	c.3598C>T
					11	c.4327C>T
					18	c.5123C>A

ISSN: 0717-6287