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01.12.2010

Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry

verfasst von: Felipe Carneiro da Silva, Ligia Petrolini de Oliveira, Érika Monteiro Santos, Wilson Toshihiko Nakagawa, Samuel Aguiar Junior, Mev Dominguez Valentin, Benedito Mauro Rossi, Fábio de Oliveira Ferreira

Erschienen in: Familial Cancer | Ausgabe 4/2010

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Abstract

Lynch syndrome (LS) is caused by inherited germline mutations in mismatch repair (MMR) genes. It is one of the commonest forms of inherited predisposition to colorectal cancer (CRC), accounting for 2–5% of all CRC. LS is characterized by early age of onset, with a tendency for multiplicity and an increased risk for extra-colonic tumors at particular sites. In this study we have evaluated the frequency of extra-colonic tumors in 60 unrelated LS families fulfilling the Amsterdam criteria (ACI. ACII) from the Oncotree database of the Hereditary Colorectal Cancer Registry of the AC Camargo Hospital. All families’ pedigree was extensively analyzed, varying from 2 to 6 generations with a total of 2,095 individuals evaluated. As expected, colorectal cancer was the most frequent tumor in the families (334 cases). We found 200 extracolonic tumors among all individuals with a higher ratio in women (123 cases) than men (77 cases). By far, breast cancer (32 cases) was the most frequent extracolonic manifestation in women followed by endometrial (20 cases) and uterine cervix cancer (20 cases). For man, prostate (16 cases) and stomach (12 cases) cancer were the most frequent extracolonic tumors. It is well know that establishing the diagnosis is challenging and requires knowledge and surveillance. Thus, recognition of individuals and families with hereditary predisposition to cancer according to clinical and molecular features, combined with intensive surveillance and management programs, can contribute substantially to improve results related to the diagnosis and characterization of LS.

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Titel: Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry
verfasst von: Felipe Carneiro da Silva
Ligia Petrolini de Oliveira
Érika Monteiro Santos
Wilson Toshihiko Nakagawa
Samuel Aguiar Junior
Mev Dominguez Valentin
Benedito Mauro Rossi
Fábio de Oliveira Ferreira
Publikationsdatum: 01.12.2010
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 4/2010
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-010-9373-2

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Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry

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