{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:01:23Z","timestamp":1757617283467,"version":"3.44.0"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T00:00:00Z","timestamp":1755648000000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic <jats:italic>FANCM<\/jats:italic> variants are linked to a Fanconi anemia\u2010like cancer predisposition syndrome, which includes early onset breast cancer, chemotherapy toxicity, and chromosome fragility. Additionally, heterozygous truncating variants have been linked to increased breast cancer risk. However, the published results have been inconsistent, and the risks and the functional effects associated with the variants also vary depending on the position in the gene, with N\u2010terminal truncating variants having a stronger effect. Compared to other <jats:italic>FANCM<\/jats:italic> variants studied, milder patient phenotypes and only late onset breast cancer have been reported for the homozygous C\u2010terminal c.5101C&gt;T variant, which is enriched in Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report here a Finnish patient, homozygous for the <jats:italic>FANCM<\/jats:italic> c.5101C&gt;T p.(Gln1701*) variant, who manifested with early onset triple\u2010negative breast cancer, chemotherapy toxicity, and chromosome fragility. Homozygosity for c.5101C&gt;T has previously been reported in two Finnish siblings with primary ovarian insufficiency and chromosome fragility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings suggest that the C\u2010terminal <jats:italic>FANCM<\/jats:italic> variant c. 5101C&gt;T may also be linked to a phenotype similar to the phenotype associated with N\u2010terminal truncating variants when inherited in a homozygous state.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cnr2.70283","type":"journal-article","created":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T09:31:11Z","timestamp":1755682271000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous <i>FANCM<\/i> Variant c.5101C&gt;T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6938-2620","authenticated-orcid":false,"given":"Sonja","family":"Sulkava","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Department of Public Health Finnish Institute for Health and Welfare  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7533-7124","authenticated-orcid":false,"given":"Anna H.","family":"Hakonen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minna","family":"P\u00f6yh\u00f6nen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Department of Obstetrics and Gynecology University of Helsinki and Helsinki University Hospital  Helsinki 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