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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Breast carcinoma and Lynch syndrome: Molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases
Breast Cancer Research, Volume 14, No. 3, Article R90, Year 2012
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Description
Introduction: Breast carcinoma is the most common cancer in women, but its incidence is not increased in Lynch syndrome (LS) and studies on DNA mismatch repair deficiency (MMR) in LS-associated breast cancers have arrived at conflicting results. This study aimed to settle the question as to whether breast carcinoma belongs to the LS tumor spectrum.Methods: MMR status and epigenetic profiles were determined for all available breast carcinomas identified among 200 LS families from a nation-wide registry (23 tumors from mutation carriers and 18 from non-carriers). Sporadic breast carcinomas (n = 49) and other cancers (n = 105) from MMR gene mutation carriers were studied for comparison.Results: The proportion of breast carcinomas that were MMR-deficient based on absent MMR protein, presence of microsatellite instability, or both was significantly (P = 0.00016) higher among breast carcinomas from mutation carriers (13/20, 65%) compared to non-carriers (0/14, 0%). While the average age at breast carcinoma diagnosis was similar in carriers (56 years) and non-carriers (54 years), it was lower for MMR-deficient versus proficient tumors in mutation carriers (53 years versus 61 years, P = 0.027). Among mutation carriers, absent MMR protein was less frequent in breast carcinoma (65%) than in any of seven other tumor types studied (75% to 100%). Tumor suppressor promoter methylation patterns were organ-specific and similar between breast carcinomas from mutation carriers and non-carriers.Conclusions: Breast carcinoma from MMR gene mutation carriers resembles common breast carcinoma in many respects (for example, general clinicopathological and epigenetic profiles). MMR status makes a distinction: over half are MMR-deficient typical of LS spectrum tumors, while the remaining subset which is MMR-proficient may develop differently. The results are important for appropriate surveillance in mutation carriers and may be relevant for LS diagnosis in selected cases. © 2012 Lotsari et al.; licensee BioMed Central Ltd.
Authors & Co-Authors
Lotsari, Johanna E.
Finland, Helsinki
Helsingin Yliopisto
Gylling, Annette H.S.
Finland, Helsinki
Helsingin Yliopisto
Abdel-Rahman, Wael M.
Finland, Helsinki
Helsingin Yliopisto
United Arab Emirates, Sharjah
University of Sharjah
Nieminen, Taina Tuulikki
Finland, Helsinki
Helsingin Yliopisto
Aittomäki, Kristiina A.U.
Finland, Helsinki
Helsinki University Hospital
Friman, Marjukka
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Pitkänen, Reino
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Aarnio, Markku T.
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Järvinen, Heikki Juhani J.
Finland, Helsinki
Helsinki University Hospital
Mecklin, Jukka Pekka
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Kuopio, T.
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Peltomäki, Päivi T.
Finland, Helsinki
Helsingin Yliopisto
Statistics
Citations: 12
Authors: 12
Affiliations: 4
Identifiers
Doi:
10.1186/bcr3205
ISSN:
14655411
e-ISSN:
1465542X
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study
Participants Gender
Female