Table 1 Syndromic genes identifiable from clinical features in a single woman that increase breast cancer risk from cohort studies
From: Gene panel testing for breast cancer should not be used to confirm syndromic gene associations
Gene | Syndrome | Birth incidence | Clinical features | Breast cancer risk to 50 years/lifetime | Other malignancy risk |
|---|---|---|---|---|---|
NF1 | Neurofibromatosis 1 | 1 in 2000–2500 | Café au lait Cutaneous neurofibromas Iris Lisch nodules | 10%/20% | Malignant peripheral nerve sheath tumour, glioma |
PTEN | PTEN hamartoma syndrome (Cowden)5 | 1 in 100,000–200,000 | Macrocephaly, mucocutaneous lesions (e.g. Trichilemmomas) | 50%/85% | Thyroid, endometrial |
STK11 | Peutz-Jeghers11 | 1:25,000 to 1:280,000 | Peri-oral pigmentation, hamartomatous bowel polyps | Nk/37–55% | Colorectal, stomach, small bowel, ovary, cervix, pancreas, testes |
