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 ofFull picture of familial cancer syndrome
Synchronous bilateral breast cancer or secondary (metachronous) breast cancerHereditary breast and ovarian cancer (HBOC) [BRCA1, BRCA2]•Breast cancer
•Ovarian cancer
Breast and ovarian cancersHBOC [BRCA 1/2]•Male breast cancer
Prostate cancer and pancreatic cancer or melanomaHBOC [BRCA 2]•Prostate cancer
•Melanoma
(Multiple) renal cell carcinomasVHL•Renal cell carcinoma <47 years
Renal cell carcinoma and pancreatic cystic lesionsVHL•Multiple renal cysts
Haemangioblastomas of central nervous system (CNS) and retinaVHL•Multiple pancreas cysts and pancreatic neuroendocrine tumour
•CNS and retinal haemagioblastomas
•Phaeochromocytomas
•Endolymphatic sac tumours
•Cystadenomas of epididymis or broad ligament
Breast cancer and sarcomaLi-Fraumeni syndrome•Soft tissue sarcoma and osteosarcoma
Breast cancer and leukaemiaLi-Fraumeni syndrome•Premenopausal breast cancer
•Leukaemia
•Brain tumours
•Adrenocortical carcinoma
•Lung bronchoalveolar cancer
Colon and endometrial cancersLynch syndrome•Colon cancer
Colon and ovarian cancersHNPCC•Endometrial cancer

•Ovarian cancer
•Renal pelvis cancers
•Ureteral cancers
•Pancreatic and hepatobiliary cancers
•Stomach and small bowel cancers
Multiple colon polpys and/or colon cancerFamilial adenomatous polyposis•Colon cancer
•Duodenal cancer
•Thyroid cancer
•Hepatoblastoma
Parathyroid adenomas and pituitary adenomasMEN1•Pituitary tumours
•Parathyroid tumours
•Endocrine tumours of the gastro–entero–pancreatic tract
•Carcinoid tumours
Medullary thyroid cancer and phaeochromocytomaMEN 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.