Hereditary conditions predisposing to breast cancer
| % | |||||
|---|---|---|---|---|---|
| Disease | Other tumour susceptibility | Inheritance | BC | HPBC | Location |
| AD, Autosomal dominant; AR, autosomal recessive; XLR, X linked recessive; HPBC, highly penetrant hereditary breast cancer (eg >3 affected relatives). | |||||
| Familial breast BRCA1 | Ovary, prostate | AD | 1.7 | 50 | 17q21 |
| Familial breast BRCA2 | Ovary, prostate, male breast cancer | AD | 1.2 | 35 | 13q12 |
| Li-Fraumeni TP53 | Sarcoma, brain, adrenocortical | AD | 0.1 | 1 | 17p13.1 |
| Ataxia-telangectasia ATM | Homozygotes (leukaemias) | AR | 0 | 0 | 11q22.3 |
| Heterozygotes (gastric) | 2 | 4–8 | |||
| Cowden PTEN | Skin, thyroid, bowel | AD | <1 | <1 | 10q23.3 |
| Reifenstein | ? | XLR | <1 | 0 | Xq11 |
| Hras variant | AD | ?8 | 0 | 11p15.5 | |
| hCHK2 | Breast | AD | 4 | 0 | 22q12.1 |