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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.
Figlioli, Gisella; Billaud, Amandine; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Lush, Michael; Kvist, Anders; Adank, Muriel A; Ahearn, Thomas U; Antonenkova, Natalia N; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; Gómez Garcia, Encarna B; González-Neira, Anna; Grassmann, Felix; Guénel, Pascal; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Jakubowska, Anna; Khusnutdinova, Elza K; Kristensen, Vessela N; Lindblom, Annika; Loizidou, Maria A; Lubinski, Jan; Mannermaa, Arto; Maurer, Tabea.
Afiliación
  • Figlioli G; Genome Diagnostics Program, IFOM ETS-The AIRC Institute of Molecular Oncology, 20139 Milan, Italy.
  • Billaud A; Genome Diagnostics Program, IFOM ETS-The AIRC Institute of Molecular Oncology, 20139 Milan, Italy.
  • Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Lush M; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
  • Kvist A; Division of Oncology, Department of Clinical Sciences Lund, Lund University, 22185 Lund, Sweden.
  • Adank MA; The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Family Cancer Clinic, 1066 CX Amsterdam, The Netherlands.
  • Ahearn TU; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Antonenkova NN; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, 223040 Minsk, Belarus.
  • Auvinen P; Translational Cancer Research Area, University of Eastern Finland, 70210 Kuopio, Finland.
  • Behrens S; Institute of Clinical Medicine, Oncology, University of Eastern Finland, 70210 Kuopio, Finland.
  • Bermisheva M; Department of Oncology, Cancer Center, Kuopio University Hospital, 70210 Kuopio, Finland.
  • Bogdanova NV; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
  • Bojesen SE; Institute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia.
  • Bonanni B; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, 223040 Minsk, Belarus.
  • Brüning T; Department of Radiation Oncology, Hannover Medical School, 30625 Hannover, Germany.
  • Camp NJ; Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany.
  • Campbell A; Copenhagen General Population Study, Copenhagen University Hospital, Herlev and Gentofte Hospital, 2730 Herlev, Denmark.
  • Castelao JE; Department of Clinical Biochemistry, Copenhagen University Hospital, Herlev and Gentofte Hospital, 2730 Herlev, Denmark.
  • Cessna MH; Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark.
  • Nbcs Collaborators; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.
  • Czene K; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), 44789 Bochum, Germany.
  • Devilee P; Department of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
  • Dörk T; Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Eriksson M; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH16 4UX, UK.
  • Fasching PA; Oncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, 36312 Vigo, Spain.
  • Flyger H; Intermountain Health, Salt Lake City, UT 84111, USA.
  • Gabrielson M; Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, 0379 Oslo, Norway.
  • Gago-Dominguez M; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0450 Oslo, Norway.
  • García-Closas M; Department of Research, Vestre Viken Hospital, 3019 Drammen, Norway.
  • Glendon G; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, 2371 Nicosia, Cyprus.
  • Gómez Garcia EB; Section for Breast- and Endocrine Surgery, Department of Cancer, Division of Surgery, Cancer and Transplantation Medicine, Oslo University Hospital-Ullevål, 0450 Oslo, Norway.
  • González-Neira A; Department of Radiology and Nuclear Medicine, Oslo University Hospital, 0379 Oslo, Norway.
  • Grassmann F; Department of Pathology, Akershus University Hospital, 1478 Lørenskog, Norway.
  • Guénel P; Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, 0379 Oslo, Norway.
  • Hahnen E; Department of Oncology, Division of Surgery, Cancer and Transplantation Medicine, Oslo University Hospital-Radiumhospitalet, 0379 Oslo, Norway.
  • Hamann U; National Advisory Unit on Late Effects after Cancer Treatment, Oslo University Hospital, 0379 Oslo, Norway.
  • Hillemanns P; Department of Oncology, Akershus University Hospital, 1478 Lørenskog, Norway.
  • Hooning MJ; Oslo Breast Cancer Research Consortium, Oslo University Hospital, 0379 Oslo, Norway.
  • Hoppe R; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Howell A; Department of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Humphreys K; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • kConFab Investigators; Gynaecology Research Unit, Hannover Medical School, 30625 Hannover, Germany.
  • Jakubowska A; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Khusnutdinova EK; Department of Gynecology and Obstetrics, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany.
  • Kristensen VN; Department of Breast Surgery, Copenhagen University Hospital, Herlev and Gentofte Hospital, 2730 Herlev, Denmark.
  • Lindblom A; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Loizidou MA; Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS) Foundation, IDIS Cancer Genetics and Epidemiology Group, Genomic Medicine Group, Complejo Hospitalario Universitario de Santiago, SERGAS, 15706 Santiago de Compostela, Spain.
  • Lubinski J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD 20892, USA.
Cancers (Basel) ; 15(13)2023 Jun 23.
Article en En | MEDLINE | ID: mdl-37444426
FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum and frequency of four common and 62 rare FANCM PTVs found in 274 carriers detected among 44,803 breast cancer cases. We confirmed that p.Gln1701* was the most common PTV in Northern Europe with lower frequencies in Southern Europe. In contrast, p.Gly1906Alafs*12 was the most common PTV in Southern Europe with decreasing frequencies in Central and Northern Europe. We verified that p.Arg658* was prevalent in Central Europe and had highest frequencies in Eastern Europe. We also confirmed that the fourth most common PTV, p.Gln498Thrfs*7, might be a founder variant from Lithuania. Based on the frequency distribution of the carriers of rare PTVs, we showed that the FANCM PTVs spectra in Southwestern and Central Europe were much more heterogeneous than those from Northeastern Europe. These findings will inform the development of more efficient FANCM genetic testing strategies for breast cancer cases from specific European populations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Cancers (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza