2014 Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome - Springer

open access (technical)

Introduction

Lynch syndrome is estimated to cause 2–4 % of ovarian cancer. Recognition of these cases is challenging, and many of the 9,000 ovarian cancers annually estimated to develop as part of Lynch syndrome probably escape detection. Whereas sporadic ovarian cancer and hereditary cancer caused by BRCA1 and BRCA2 gene mutations develop at a mean age of 65–70 years, typically show serous histopathology and present at advanced tumor stages [1, 2], ovarian cancer linked to Lynch syndrome typically develops at a mean age of 45 years as early-stage tumors of the endometrioid and clear cell histologic subtypes [2–7]. Lynch syndrome is caused by germline mutations in the mismatch-repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Carriers of disease-predisposing mutations are estimated to be at 7–12 % life-time risk for ovarian cancer, at 50–80 % risk for colorectal cancer and at 40–60 % risk for endometrial cancer [5, 8, 9]. Recognition of ovarian cancers linked to Lynch syndrome tumors is important since family members at risk can be offered surveillance and/or prophylactic measures that reduce morbidity and mortality, not least from the more commonly occurring colorectal cancers.

In ovarian cancer, the different histopathologic subtypes have been suggested to constitute separate disease entities with differences related to biological features, treatment response and prognosis [10, 11].......

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