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- Publisher Website: 10.1038/s41598-019-48804-y
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Article: Two truncating variants in FANCC and breast cancer risk
Title | Two truncating variants in FANCC and breast cancer risk |
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Authors | |
Issue Date | 2019 |
Publisher | Nature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/srep/index.html |
Citation | Scientific Reports, 2019, v. 9, article no. 12524 How to Cite? |
Abstract | 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. |
Persistent Identifier | http://hdl.handle.net/10722/279205 |
ISSN | 2023 Impact Factor: 3.8 2023 SCImago Journal Rankings: 0.900 |
PubMed Central ID | |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Dörk, T | - |
dc.contributor.author | Peterlongo, P | - |
dc.contributor.author | Mannermaa, A | - |
dc.contributor.author | Kwong, A | - |
dc.date.accessioned | 2019-10-21T02:21:32Z | - |
dc.date.available | 2019-10-21T02:21:32Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Scientific Reports, 2019, v. 9, article no. 12524 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | http://hdl.handle.net/10722/279205 | - |
dc.description.abstract | 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. | - |
dc.language | eng | - |
dc.publisher | Nature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/srep/index.html | - |
dc.relation.ispartof | Scientific Reports | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | Two truncating variants in FANCC and breast cancer risk | - |
dc.type | Article | - |
dc.identifier.email | Kwong, A: avakwong@hku.hk | - |
dc.identifier.authority | Kwong, A=rp01734 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1038/s41598-019-48804-y | - |
dc.identifier.pmid | 31467304 | - |
dc.identifier.pmcid | PMC6715680 | - |
dc.identifier.scopus | eid_2-s2.0-85071631153 | - |
dc.identifier.hkuros | 307931 | - |
dc.identifier.volume | 9 | - |
dc.identifier.spage | article no. 12524 | - |
dc.identifier.epage | article no. 12524 | - |
dc.identifier.isi | WOS:000483017100003 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 2045-2322 | - |