Table 4.
Clinical scenarios and potential genetic cancer syndrome
| Clinical picture, patient with a history or diagnosis of (synchronous or metachronous) | Familial cancer syndrome to think of | Full picture of familial cancer syndrome |
| Synchronous bilateral breast cancer or secondary (metachronous) breast cancer | Hereditary breast and ovarian cancer (HBOC) [BRCA1, BRCA2] | •Breast cancer |
| •Ovarian cancer | ||
| Breast and ovarian cancers | HBOC [BRCA 1/2] | •Male breast cancer |
| Prostate cancer and pancreatic cancer or melanoma | HBOC [BRCA 2] | •Prostate cancer |
| •Melanoma | ||
| (Multiple) renal cell carcinomas | VHL | •Renal cell carcinoma <47 years |
| Renal cell carcinoma and pancreatic cystic lesions | VHL | •Multiple renal cysts |
| Haemangioblastomas of central nervous system (CNS) and retina | VHL | •Multiple pancreas cysts and pancreatic neuroendocrine tumour |
| •CNS and retinal haemagioblastomas | ||
| •Phaeochromocytomas | ||
| •Endolymphatic sac tumours | ||
| •Cystadenomas of epididymis or broad ligament | ||
| Breast cancer and sarcoma | Li-Fraumeni syndrome | •Soft tissue sarcoma and osteosarcoma |
| Breast cancer and leukaemia | Li-Fraumeni syndrome | •Premenopausal breast cancer |
| •Leukaemia | ||
| •Brain tumours | ||
| •Adrenocortical carcinoma | ||
| •Lung bronchoalveolar cancer | ||
| Colon and endometrial cancers | Lynch syndrome | •Colon cancer |
| Colon and ovarian cancers | HNPCC | •Endometrial cancer |
|
|
•Ovarian cancer | |
| •Renal pelvis cancers | ||
| •Ureteral cancers | ||
| •Pancreatic and hepatobiliary cancers | ||
| •Stomach and small bowel cancers | ||
| Multiple colon polpys and/or colon cancer | Familial adenomatous polyposis | •Colon cancer |
| •Duodenal cancer | ||
| •Thyroid cancer | ||
| •Hepatoblastoma | ||
| Parathyroid adenomas and pituitary adenomas | MEN1 | •Pituitary tumours |
| •Parathyroid tumours | ||
| •Endocrine tumours of the gastro–entero–pancreatic tract | ||
| •Carcinoid tumours | ||
| Medullary thyroid cancer and phaeochromocytoma | MEN 2 | •Medullary thyroid cancer |
| •Phaeochromocytoma | ||
| •Parathyroid hyperplasia/adenoma |
HNPCC, hereditary non-polyposis colon cancer; MEN1, multiple endocrine neoplasia type 1; MEN2, multiple endocrine neoplasia type 2; VHL, von Hippel-Lindau.