Table 1.

Missense mutations/alterations introduced into ATM cDNA using in vitro mutagenesis and employed in this investigation

	Amino acid alteration	Nucleotide change	Allelic counts
A-T mutants	SRI2546del3	7636del9
	V2716A	8147T→C
	R2849P	8546G→C
	G2867R	8599G→C
	V2662del	7987delGTT
Variants in breast cancer	A2274T	6820G→A	1/384
	G2287A	6860G→C	1/384
	C2464R	7390T→C	2/384
	S2592C	7775C→G	1/384
	G2772R	8314G→A	1/384

Nucleotide and the corresponding amino acid alterations are indicated. The allele frequencies of the selected missense substitutions in 192 breast cancer patients are indicated. These missense substitutions were confined to one of both groups and were not observed among 100 control individuals from the general population.