Familial Cancer Service, Westmead Hospital, Westmead, Sydney, Australia.
Fam Cancer. 2009;8(3):251-5. doi: 10.1007/s10689-008-9226-4. Epub 2009 Jan 4.
Immunohistochemistry of tumour samples is increasingly used in the triage of families where hereditary non-polyposis colorectal cancer (HNPCC) due to mismatch repair defects is suspected. Usually, this is undertaken in tumours that are a recognised part of the spectrum of HNPCC-related cancers e.g. colon or endometrial cancers. Although breast cancers are not classed as part of this spectrum, this study examined the extent to which some breast tumours do arise by the mismatch repair pathway in these families. This may have clinical utility in families where an individual with a 'classic HNPPC-related' tumour is not available for evaluation. Immunohistochemistry of a breast tumour may identify an individual in whom germline mutation testing is worthwhile.
肿瘤样本的免疫组织化学分析越来越多地用于对疑似由于错配修复缺陷引起的遗传性非息肉病性结直肠癌 (HNPCC) 的家族进行分类。通常，这是在已被确认为 HNPCC 相关癌症谱的一部分的肿瘤中进行的，例如结肠癌或子宫内膜癌。尽管乳腺癌不属于该谱的一部分，但本研究检查了在这些家族中，某些乳腺癌通过错配修复途径发生的程度。在无法评估患有“经典 HNPPC 相关”肿瘤的个体的家族中，这可能具有临床应用价值。对乳腺癌进行免疫组织化学分析可能会发现值得进行种系突变测试的个体。
