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Table 1 Description of single nucleotide polymorphisms examined in the progression of BBD to breast cancer

From: Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease

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  
ESR1 851982 -104062C>T  
ESR1 2228480 Ex8+229G>A Thr594Thr
ESR2 4986938 38 bp 3' of STP C>T  
ESR2 928554 5659 bp 3' of STP G>A  
ESR2 none 5696 bp 3' of STP A>G  
ESR2 8018687 5772 bp 3' of STP A>G