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Table 3 Selected rare syndromes with increased risk of breast and/or ovarian cancer

From: Hereditary breast and 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
  1. Inheritance
  2. AD - autosomal dominant, AR - autosomal recessive