Table 1

Breast cancer susceptibility genes with their localisation and presumed function

GeneLocation and function
*DNA RP: DNA repair pathway. †TSG: tumour suppressor gene. ‡MP: metabolic pathway. §EP: oestrogen pathway. ¶IP: immuno pathway. **IMP: iron metabolism pathway.
BRCA1 17q21, DNA RP*, guardian of genome integrity292,293
BRCA2 13q12-13, DNA RP, guardian of genome integrity294,295
Tp53 17p13.1, DNA RP, protection against replication of damaged DNA296–298
ATM 11q22-23, DNA RP, sensor in cellular response to DNA double strand breaks299,300
PTEN 10q23.3, TSG†, suppresses cell cycle progression and induction of apoptosis301
LKB1 19p13.3, serine/threonine kinase, otherwise unknown function
HRAS1 11p15, proto-oncogene, control of cell growth and differentiation302
NAT1 8p22, MP‡, detoxification of arylamines17,139,303,304
NAT2 8p22, MP, detoxification of arylamines17,139,303,304
GSTM1 1p13.3, MP, detoxification of a wide range of xenobiotics, including environmental carcinogens, chemotherapeutic agents, and reactive oxygen species305–307
GSTP1 11q13, MP, detoxification of numerous chemicals including chemotherapy agents and catechol oestrogens170,179,308
GSTT1 11q, MP, detoxification of a wide range of xenobiotics, including environmental carcinogens, chemotherapeutic agents, and reactive oxygen species17,305,307
CYP1A1 15q, MP, EP§, metabolism of oestrogens and PAHs17,185,309
CYP1B1 2p21, MP, metabolism of PAHs194,310
CYP2D6 22q11-ter, MP, metabolism of many commonly prescribed drugs, including debrisoquine and codeine17,311
CYP17 10q24.3, EP, balance of oestrogens, progesterones, and androgens114,212
CYP19 11q21.1, EP, catalysing the conversion of androgens into oestrogens, determines the local oestrogen level312–314
ER 6q25.1, EP, binding and transfer of oestrogens to the nuclei, ER modulates transcription of a number of growth factors (IGF-1, TGFα)315–317
PR 11q22-23, EP318
AR Xq11-12, EP
COMT 22q11.2, EP, conjugation and inactivation of catechol oestrogens319–322
UGT1A1 2q37, MP, EP, phase II drugs metabolism and maintain intracellular steady state levels of oestrogen323–325
TNFα 6p21, IP¶, central mediator in the inflammatory response and immunological activities to tumour cells265–267
HSP70 6p21, molecular chaperones, regulation of structure, subcellular localisation, and turnover of cell proteins271,326
HFE 6p21, IMP**
TFR 3q, IMP327
VDR 12q, cell differentiation328–330
APC 5q22, inhibits the progression of cells from G1 to S phase, apoptosis, cell-cell interactions331
APOE 19q13.2, lipid metabolism332
CYP2E1 10q24.3-ter, MP, metabolism of acetone, ethyl glycol, and ethanol17,333
EDH17B2 17q12-21, EP, catalyses the reaction between oestrone and oestradiol334,335
HER2 17q21, proto-oncogene, control of cell growth and proliferation336,337
TβR-I 9q33-34, cell growth308