Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors
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Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors. / Ketabi, Zohreh; Bartuma, Katarina; Bernstein, Inge; Malander, Susanne; Grönberg, Henrik; Björck, Erik; Holck, Susanne; Nilbert, Mef; Ketabi, Zohreh; Ketabi, Zohreh.
In: Gynecologic Oncology, Vol. 121, No. 3, 06.2011.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors
AU - Ketabi, Zohreh
AU - Bartuma, Katarina
AU - Bernstein, Inge
AU - Malander, Susanne
AU - Grönberg, Henrik
AU - Björck, Erik
AU - Holck, Susanne
AU - Nilbert, Mef
AU - Ketabi, Zohreh
AU - Ketabi, Zohreh
N1 - Copyright © 2011 Elsevier Inc. All rights reserved.
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
U2 - 10.1016/j.ygyno.2011.02.010
DO - 10.1016/j.ygyno.2011.02.010
M3 - Journal article
C2 - 21388660
VL - 121
JO - Gynecologic Oncology
JF - Gynecologic Oncology
SN - 0090-8258
IS - 3
ER -
ID: 34071102