Table 1.

Genomic analysis for BRCA1 and BRCA2 mutations

Gene	Exon	Nucleotide change	Amino acid change	Zygosity	Mutation type	Mutation effect
BRCA1	6	277_279delinsCC	Phe93fs	Hetero	FS	NR
	11	2082C>T	Ser694Ser	Hetero	Syn	P
	11	2311T>C	Leu771Leu	Hetero	Syn	P
	11	2612C>T	Pro871Leu	Hetero	MS	P
	11	3113A>G	Glu1038Gly	Hetero	MS	P
	11	3548A>G	Lys1183Arg	Hetero	MS	P
	13	4308T>C	Ser1436Ser	Hetero	Syn	P
	16	4837A>G	Ser1613Gly	Hetero	MS	P
BRCA2	2 (5' UTR)	-26G>A	-	Hetero	IVS	P
	10	1114C>A	His372Asn	Homo	MS	P
	10	1176C>T	Ala392Ala	Hetero	Syn	P
	11	3396A>G	Lys1132Lys	Hetero	Syn	P
	11	3807T>C	Val1269Val	Hetero	Syn	P
	14	7242A>G	Ser2414Ser	Hetero	Syn	P
	17 (Int16)	7806-14T>C	-	Hetero	IVS	P

FS, frameshift mutation; NR, not reported; Syn, synonymous; P, polymorphism; MS, missense mutation; UTR, untranslated region; IVS, intervening sequence.