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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome
Digestive Diseases and Sciences, Volume 52, No. 8, Year 2007
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Description
Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome (PJS), an autosomal-dominant disorder characterized by mucocutaneous pigmentation, hamartomatous polyps, and an increased risk of associated malignancies. In this study, we assessed the presence of pathogenic mutations in the LKB1/STK11 gene in 46 unrelated PJS families, and also carried genotype-phenotype correlation in regard of the development of cancer in 170 PJS patients belonging to these families. All LKB1/STK11 variants detected with single-strand conformational polymorphism were confirmed by direct sequencing, and those without LKB1/STK11 mutation were further submitted to Southern blot analysis for detection of deletions/rearrangements. Statistical analysis for genotype-phenotype correlation was performed. In 59% (27/46) of unrelated PJS cases, pathogenic mutations in the LKB1/STK11 gene, including 9 novel mutations, were identified. The new mutations were 2 splice site deletion-insertions, 2 missenses, 1 nonsense, and 4 abnormal splice sites. Genotype-phenotype analysis did not yield any significant differences between patients carrying mutations in LKB1/STK11 versus those without mutations, even with respect to primary biliary adenocarcinoma. This study presents the molecular characterization and cancer occurrence of a large cohort of PJS patients, increases the mutational spectrum of LKB1/STK11 allelic variants worldwide, and provides a new insight useful for clinical diagnosis and genetic counseling of PJS families. © 2006 Springer Science+Business Media, Inc.
Authors & Co-Authors
Mehenni, Hamid
Switzerland, Geneva
Université de Genève
Switzerland, Geneva
Centre Medical du Rond-point de Plainpalais
Resta, Nicoletta
Italy, Bari
Università Degli Studi Di Bari Aldo Moro
Guanti, Ginevra
Italy, Bari
Università Degli Studi Di Bari Aldo Moro
Mota-Vieira, L.
Portugal, Ponta Delgada
Hospital de Ponta Delgada
Lerner, Aaron
Israel, Haifa
Universität Haifa
Peyman, Mohammed
Iran, Najafabad
Islamic Azad University, Najafabad Branch
Chong, Kim A.
Brazil, Sao Paulo
Universidade de São Paulo
Aissa, Larbi
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Ince, Ali
Turkey, Istanbul
Haydarpasa Numune Training Hospital
Cosme, Ángel
Spain, Donostia-san Sebastian
Osakidetza, Donostia University Hospital
Costanza, Michael C.
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Rossier, Colette
Switzerland, Geneva
Université de Genève Faculté de Médecine
Radhakrishna, Uppala
India, Ahmedabad
Green Cross Voluntary Blood Bank
Burt, Randall W.
United States, Salt Lake City
The University of Utah
Picard, Didier
Switzerland, Geneva
Université de Genève
Statistics
Citations: 60
Authors: 15
Affiliations: 14
Identifiers
Doi:
10.1007/s10620-006-9435-3
ISSN:
01632116
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Quantitative