Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
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- Johanna I. Kiiski
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Liisa M. Pelttari
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Sofia Khan
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Edda S. Freysteinsdottir
- Molecular Pathology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;
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- Inga Reynisdottir
- Cell Biology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;
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- Steven N. Hart
- Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;
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- Hermela Shimelis
- Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;
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- Sara Vilske
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Anne Kallioniemi
- BioMediTech, University of Tampere and Fimlab Laboratories, FIN-33014, Tampere, Finland;
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- Johanna Schleutker
- BioMediTech, University of Tampere and Fimlab Laboratories, FIN-33014, Tampere, Finland;
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- Arto Leminen
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Ralf Bützow
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
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- Carl Blomqvist
- Oncology, and
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- Rosa B. Barkardottir
- Molecular Pathology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;
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- Fergus J. Couch
- Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;
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- Kristiina Aittomäki
- Clinical Genetics, Helsinki University Central Hospital, FIN-00029 HUS, Helsinki, Finland
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- Heli Nevanlinna
- Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;
説明
<jats:title>Significance</jats:title> <jats:p> The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing of 24 high-risk familial <jats:italic>BRCA1/2</jats:italic> -negative breast cancer patients and further genotyping of a large sample set of breast/ovarian cancer cases and controls was used to discover previously unidentified susceptibility alleles and genes. A significant association of a <jats:italic>FANCM</jats:italic> nonsense mutation with breast cancer, especially triple-negative breast cancer, identifies <jats:italic>FANCM</jats:italic> as a breast cancer susceptibility gene. Identification of such risk alleles is expected to improve cancer risk assessment for breast cancer patients and families, and may lead to improvements in the prevention, early diagnosis, and treatment of cancer. </jats:p>
収録刊行物
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- Proceedings of the National Academy of Sciences
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Proceedings of the National Academy of Sciences 111 (42), 15172-15177, 2014-10-06
Proceedings of the National Academy of Sciences
