Research Center of the AC Camargo Hospital, Fundação Antônio Prudente, Rua Taguá No 440, São Paulo 01508-010, Brazil.
Fam Cancer. 2010 Dec;9(4):563-70. doi: 10.1007/s10689-010-9373-2.
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.
林奇综合征（LS）是由错配修复（MMR）基因的种系突变引起的。它是结直肠癌（CRC）最常见的遗传易感性形式之一，占所有 CRC 的 2-5%。LS 的特征是发病年龄早，多发性倾向和特定部位结外肿瘤的风险增加。在这项研究中，我们评估了来自 Oncotree 数据库的 AC Camargo 医院遗传性结直肠癌登记处的 Hereditary Colorectal Cancer Registry 的 60 个不相关的符合阿姆斯特丹标准（ACI. ACII）的 LS 家族的结外肿瘤的频率。对所有家族的系谱进行了广泛分析，从 2 到 6 代，共评估了 2095 个人。正如预期的那样，结直肠癌是家族中最常见的肿瘤（334 例）。我们在所有个体中发现了 200 例结外肿瘤，女性的比例较高（123 例），男性（77 例）。到目前为止，乳腺癌（32 例）是女性最常见的结外表现，其次是子宫内膜癌（20 例）和子宫颈癌（20 例）。对于男性，前列腺癌（16 例）和胃癌（12 例）是最常见的结外肿瘤。众所周知，建立诊断具有挑战性，需要知识和监测。因此，根据临床和分子特征识别具有遗传性癌症易感性的个体和家族，结合强化监测和管理计划，可以大大有助于改善 LS 的诊断和特征描述相关的结果。
