Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors.

Abstract:

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.

journal_name

Gynecol Oncol

journal_title

Gynecologic oncology

authors

Ketabi Z,Bartuma K,Bernstein I,Malander S,Grönberg H,Björck E,Holck S,Nilbert M

doi

10.1016/j.ygyno.2011.02.010

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

462-5

issue

3

eissn

0090-8258

issn

1095-6859

pii

S0090-8258(11)00122-3

journal_volume

121

pub_type

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