Table 3 Selected rare syndromes with increased risk of breast and/or ovarian cancer
Disease | Clinical features | Gene mutation/Inheritance | References |
|---|---|---|---|
Li-Fraumeni syndrome | breast cancers, sarcomas, brain tumours, leukaemia, renal gland cancer | p53, high penetrance, AD | 17, 33 |
Cowden disease | multifocal mucoid skin abnormalities, benign proliferative abnormalities of different organs, thyroid cancers, breast/ovarian cancers | PTEN, AD | 34, 35 |
HNPCC | colon cancers, endometrial cancers, other organ cancers including breast and ovary | MSH2, MLH1, AD | 36 |
Peutz-Jeghers syndrome | hyperpigmentation of the mouth, bowel polyps, colorectal cancers, small bowel cancers, gonadal tumours, breast cancers | STK11, AD | 37 |
Ruvalcaba-Myhre-Smith (Z. Bannayan-Riley-Ruvalcaba) syndrome | macrocephaly, bowel polyps, "café-au-lait" on penis, lymphomas, thyroid cancers, breast cancers | PTEN, AD | 38 |
Heterozygotic carrier status of "ataxia telangiectasia" gene | ocular ataxia, ataxia of cerebellum and skin, hypersensitivity to radiation, different site neoplasm including breast/ovarian cancer | ATM | 39 |
ATH gene carriers | increased breast cancer risk | low penetrance 20-40%, AD | 6 |
Klinefelter syndrome | gynaecomastia, cryptorchidism, extragonadal germ cell tumours, male breast cancer | 47, XXY, low penetrance, <10% | 40 |
Androgen receptor gene mutation | familial male breast cancer | androgen receptor | 41 |
Constitutional translocation t(11q;22q) | increased breast cancer risk | balanced translocation t(11q;22q) | 42 |