{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T22:54:56Z","timestamp":1761519296065,"version":"build-2065373602"},"reference-count":15,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,26]],"date-time":"2020-01-26T00:00:00Z","timestamp":1579996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["16732"],"award-info":[{"award-number":["16732"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2\u20134-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.<\/jats:p>","DOI":"10.3390\/cancers12020292","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T07:41:11Z","timestamp":1580110871000},"page":"292","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0740-1363","authenticated-orcid":false,"given":"Gisella","family":"Figlioli","sequence":"first","affiliation":[{"name":"Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy"}]},{"given":"Anders","family":"Kvist","sequence":"additional","affiliation":[{"name":"Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden"}]},{"given":"Emma","family":"Tham","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden"}]},{"given":"Jana","family":"Soukupova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4806-9854","authenticated-orcid":false,"given":"Petra","family":"Kleiblova","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague 12800, Czech Republic"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5895-1808","authenticated-orcid":false,"given":"Taru","family":"Muranen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland"}]},{"given":"Nadine","family":"Andrieu","sequence":"additional","affiliation":[{"name":"Inserm, U900, Institut Curie, PSL University, Paris F-75005, France"},{"name":"Mines ParisTech, Fontainebleau F-77300, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9364-9778","authenticated-orcid":false,"given":"Jacopo","family":"Azzollini","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology and Hematology, Unit of Medical Genetics Fondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy"}]},{"given":"Judith","family":"Balma\u00f1a","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Group, Vall d\u2019Hebron Institute of Oncology (VHIO), Barcelona 08035, Spain"},{"name":"Department of Medical Oncology, University Hospital Vall d\u00b4Hebron, Barcelona 08035, Spain"}]},{"given":"Alicia","family":"Barroso","sequence":"additional","affiliation":[{"name":"Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain"}]},{"given":"Javier","family":"Ben\u00edtez","sequence":"additional","affiliation":[{"name":"Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain"},{"name":"Spanish Network on Rare Diseases (CIBERER), Madrid 28029, Spain"},{"name":"Genotyping Unit, CEGEN, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain"}]},{"given":"Birgitte","family":"Bertelsen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark"}]},{"given":"Ana","family":"Blanco","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n P\u00fablica Galega Medicina Xen\u00f3mica-SERGAS, Santiago de Compostela 15706, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain"},{"name":"Centro de Investigaci\u00f3n en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3589-2128","authenticated-orcid":false,"given":"Bernardo","family":"Bonanni","sequence":"additional","affiliation":[{"name":"Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy"}]},{"given":"\u00c5ke","family":"Borg","sequence":"additional","affiliation":[{"name":"Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1945-3512","authenticated-orcid":false,"given":"Joan","family":"Brunet","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, 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Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/gim.2017.124","article-title":"Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia","volume":"20","author":"Bogliolo","year":"2018","journal-title":"Genet. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/gim.2017.123","article-title":"Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility","volume":"20","author":"Catucci","year":"2018","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"15172","DOI":"10.1073\/pnas.1407909111","article-title":"Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer","volume":"111","author":"Kiiski","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2760","DOI":"10.1002\/ijc.30394","article-title":"FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome","volume":"139","author":"Kiiski","year":"2016","journal-title":"Int. J. Cancer"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"5345","DOI":"10.1093\/hmg\/ddv251","article-title":"FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor","volume":"24","author":"Peterlongo","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s10549-017-4388-0","article-title":"FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population","volume":"166","author":"Kiiski","year":"2017","journal-title":"Breast Cancer Res. Treat."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1001\/jamaoncol.2016.5592","article-title":"Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer","volume":"3","author":"Neidhardt","year":"2017","journal-title":"JAMA Oncol."},{"key":"ref_10","unstructured":"Figlioli, G., Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S.V., Pujol, R., Kiiski, J.I., Muranen, T.A., Barnes, D.R., and Dennis, J. (2019). The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. npj Breast Cancer, 5."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1093\/jnci\/djy106","article-title":"Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing","volume":"110","author":"Shimelis","year":"2018","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/humu.21628","article-title":"ENIGMA\u2014Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes","volume":"33","author":"Spurdle","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2683","DOI":"10.1002\/ijc.31992","article-title":"The identification of pathogenic variants in BRCA1\/2 negative, high risk, hereditary breast and\/or ovarian cancer patients: High frequency of FANCM pathogenic variants","volume":"144","author":"Schubert","year":"2019","journal-title":"Int. J. Cancer"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ejmg.2012.12.007","article-title":"Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation","volume":"56","author":"Janavicius","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.cancergen.2014.05.002","article-title":"Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania","volume":"207","author":"Janavicius","year":"2014","journal-title":"Cancer Genet."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/12\/2\/292\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:20:39Z","timestamp":1760361639000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/12\/2\/292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,26]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,2]]}},"alternative-id":["cancers12020292"],"URL":"https:\/\/doi.org\/10.3390\/cancers12020292","relation":{},"ISSN":["2072-6694"],"issn-type":[{"type":"electronic","value":"2072-6694"}],"subject":[],"published":{"date-parts":[[2020,1,26]]}}}