Table 1 Description of single nucleotide polymorphisms examined in the progression of BBD to breast cancer
Gene | dbSNP rs # | snp description | Amino Acid Substitution |
|---|---|---|---|
COMT | 4680 | Ex3-12G>A | Val158Met |
CYP1A1 | 1048943 | Ex7+131A>G | Ile462Val |
CYP1B1 | 1800440 | Ex3+315A>G | Asn453Ser |
CYP1B1 | 10012 | Ex2+143C>G | Arg48Gly |
CYP1B1 | 1056836 | Ex3+251G>C | Val432Leu |
ESR1 | 1801132 | Ex4-122G>C | Pro325Pro |
ESR1 | 2077647 | Ex1+392T>C | Ser10Ser |
ESR1 | 746432 | Ex1-192G>C | Ala87Ala |
ESR1 | 2273206 | IVS6+52G>T | Â |
ESR1 | 851982 | -104062C>T | Â |
ESR1 | 2228480 | Ex8+229G>A | Thr594Thr |
ESR2 | 4986938 | 38 bp 3' of STP C>T | Â |
ESR2 | 928554 | 5659 bp 3' of STP G>A | Â |
ESR2 | none | 5696 bp 3' of STP A>G | Â |
ESR2 | 8018687 | 5772 bp 3' of STP A>G | Â |