Two truncating variants in FANCC and breast cancer risk

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ABCTB Investigators , NBCS Collaborators , Dörk , T , Peterlongo , P & Mannermaa , A 2019 , ' Two truncating variants in FANCC and breast cancer risk ' , Scientific Reports , vol. 9 , 12524 .

Title: Two truncating variants in FANCC and breast cancer risk
Author: ABCTB Investigators; NBCS Collaborators; Dörk, Thilo; Peterlongo, Paolo; Mannermaa, Arto
Contributor organization: HUS Comprehensive Cancer Center
University Management
Department of Oncology
University of Helsinki
Department of Obstetrics and Gynecology
HUS Gynecology and Obstetrics
Date: 2019-08-29
Language: eng
Number of pages: 14
Belongs to series: Scientific Reports
ISSN: 2045-2322
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.
3111 Biomedicine
1184 Genetics, developmental biology, physiology
3122 Cancers
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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