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Two truncating variants in FANCC and breast cancer risk
Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany.
IFOM FIRC Inst Mol Oncol, Genome Diagnost Program, Milan, Italy.
Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland;Kuopio Univ Hosp, Imaging Ctr, Dept Clin Pathol, Kuopio, Finland.
Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England.
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2019 (English)In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 9, article id 12524Article in journal (Refereed) Published
Abstract [en]

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95% CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.

Place, publisher, year, edition, pages
2019. Vol. 9, article id 12524
National Category
Medical Genetics
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URN: urn:nbn:se:uu:diva-394264DOI: 10.1038/s41598-019-48804-yISI: 000483017100003PubMedID: 31467304OAI: oai:DiVA.org:uu-394264DiVA, id: diva2:1359485
Funder
Swedish Research CouncilEU, Horizon 2020EU, European Research CouncilSwedish Cancer SocietyAvailable from: 2019-10-09 Created: 2019-10-09 Last updated: 2019-10-09Bibliographically approved

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