ATM gene mutations in sporadic breast cancer patients from Brazil

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Table 2 Potential mutations in the ATM gene identified in Brazilian breast cancer patients

Exon position	Nucleotide change	Residue	Functional impact*	LOH	Sample	Age* (years)**	Clinical stage
13	c.1636C > G	p.L546V	Damaging	No	M227	46	I
14	c.1810C > T	p.P604S	Damaging	Yes**	M231	50	IV
20	c.2804C > G	p.T935R	Neutral	Yes**	M214	51	III
39	c.5647C > T	p.R1882X	Protein truncation	Yes**	M115	75	III
42	c.6067G > A	p.G2023R	Damaging	No	M294	45	II
49	c.6919C > T	p.L2307F	Damaging	No	72TL	67	II
49	c.6919C > T	p.L2307F	Damaging	Yes	M214	51
50	c.6995 T > C	p.L2332P	Neutral	Yes	112TL	25	II
50	c.6995 T > C	p.L2332P	Neutral	No	M227	46