Rare hereditary syndromes with increased risk of cancer

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Klin Onkol 2006; 19(Suppl): 68-75.

Summary
Besides relatively frequent syndromes of hereditary predisposition to cancer that include hereditary breast and ovarian cancer, hereditary nonpolyposis colon cancer and familial adenomatous polyposis, there are also other less frequent syndromes. The aim of this article is to review these syndromes, their clinical symptomatology and recommend screening. Included are ataxia teleangiectasia, Nijmegen breakage syndrome, Berlin breakage syndrome, Seckel syndrome, Bloom syndrome, Fanconi anaemia, Xeroderma pigmentosum, familial melanoma with and without dysplastic nevi, neurocutaneous melanosis, Gorlin syndrome, Rothmund-Thomson syndrome, Werner syndrome, oesophageal cancer with tylosis, familial cancer of stomach, familial cancer of pancreas, neurofibromatosis, familial chordoma, familial paraganglioma, multiple endocrine neoplasia, familial karcinoid, multiple osteochondromatosis, familial prostate cancer, familial testicular cancer, retinoblastoma, tuberous sclerosis, Cowden syndrome, Wilms tumor, overgrowth syndromes and Carney syndrome.

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