OBJECTIVE: Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized. METHODS: We characterized clinical features, tumor morphology and mismatch repair defects in all ovarian cancers identified in Swedish and Danish Lynch syndrome families. RESULTS: In total, 63 epithelial ovarian cancers developed at mean 48 (range 30-79) years of age with 47% being early stage (FIGO stage I). Histologically, endometrioid (35%) and clear cell (17%) tumors were overrepresented. The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. CONCLUSION: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch syndrome typically presents at young age as early-stage, non-serous tumors, which implicates that a family history of colorectal and endometrial cancer should be specifically considered in such cases.
OBJECTIVE: Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized. METHODS: We characterized clinical features, tumor morphology and mismatch repair defects in all ovarian cancers identified in Swedish and Danish Lynch syndrome families. RESULTS: In total, 63 epithelial ovarian cancers developed at mean 48 (range 30-79) years of age with 47% being early stage (FIGO stage I). Histologically, endometrioid (35%) and clear cell (17%) tumors were overrepresented. The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. CONCLUSION: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch syndrome typically presents at young age as early-stage, non-serous tumors, which implicates that a family history of colorectal and endometrial cancer should be specifically considered in such cases.
Authors: Jesca G M Brouwer; Polly A Newcomb; Tanya M Bisseling; Jane C Figueiredo; John L Hopper; Mark A Jenkins; Jan J Koornstra; Noralane M Lindor; Hans F A Vasen; Aung K Win; Ellen Kampman; Fränzel J B van Duijnhoven Journal: Am J Epidemiol Date: 2021-02-01 Impact factor: 4.897
Authors: Koah R Vierkoetter; Asia R Ayabe; Maya VanDrunen; Hyeong Jun Ahn; David M Shimizu; Keith Y Terada Journal: Gynecol Oncol Date: 2014-08-02 Impact factor: 5.482
Authors: Domenico Coppola; Santo V Nicosia; Andrea Doty; Thomas A Sellers; Ji-Hyun Lee; Jimmy Fulp; Zachary Thompson; Sanja Galeb; John McLaughlin; Steven A Narod; Joellen Schildkraut; Tuya Pal Journal: Anticancer Res Date: 2012-11 Impact factor: 2.480
Authors: Adam N Rosenthal; Lindsay Fraser; Ranjit Manchanda; Philip Badman; Susan Philpott; Jessica Mozersky; Richard Hadwin; Fay H Cafferty; Elizabeth Benjamin; Naveena Singh; D Gareth Evans; Diana M Eccles; Steven J Skates; James Mackay; Usha Menon; Ian J Jacobs Journal: J Clin Oncol Date: 2012-12-03 Impact factor: 44.544