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Two truncating variants in FANCC and breast cancer risk
- Source :
- 2019, ' Two truncating variants in FANCC and breast cancer risk ', Scientific Reports, vol. 9, no. 1 . https://doi.org/10.1038/s41598-019-48804-y, ABCTB Investigators & NBCS Collaborators 2019, ' Two truncating variants in FANCC and breast cancer risk ', Scientific Reports, vol. 9, no. 1, 12524 . https://doi.org/10.1038/s41598-019-48804-y, Scientific Reports, 9. NATURE PUBLISHING GROUP, Scientific Reports, Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019), Scientific Reports, 9:12524. Nature Publishing Group
- Publication Year :
- 2019
- Publisher :
- NATURE PUBLISHING GROUP, 2019.
-
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.
- Subjects :
- 0301 basic medicine
Oncology
PROTEIN
lcsh:Medicine
45/47
0302 clinical medicine
Fanconi anemia
Genotype
lcsh:Science
Sequence Deletion
Multidisciplinary
BRCA1 Protein
Fanconi Anemia Complementation Group C Protein
1184 Genetics, developmental biology, physiology
BRCA2 Protein
3. Good health
BIALLELIC MUTATIONS
DNA-REPAIR
Female
692/499
Medical Genetics
medicine.medical_specialty
PALB2
3122 Cancers
ABCTB Investigators
Breast Neoplasms
FANCONIS ANEMIA
Article
692/4028
NBCS Collaborators
03 medical and health sciences
Breast cancer
SDG 3 - Good Health and Well-being
Internal medicine
medicine
Humans
NONSENSE MUTATION
Genetic Predisposition to Disease
Medicinsk genetik
45
business.industry
Genetic heterogeneity
lcsh:R
Case-control study
Genetic Variation
Odds ratio
medicine.disease
GENE
Fanconi Anemia
030104 developmental biology
Risk factors
Case-Control Studies
lcsh:Q
3111 Biomedicine
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 20452322
- Database :
- OpenAIRE
- Journal :
- 2019, ' Two truncating variants in FANCC and breast cancer risk ', Scientific Reports, vol. 9, no. 1 . https://doi.org/10.1038/s41598-019-48804-y, ABCTB Investigators & NBCS Collaborators 2019, ' Two truncating variants in FANCC and breast cancer risk ', Scientific Reports, vol. 9, no. 1, 12524 . https://doi.org/10.1038/s41598-019-48804-y, Scientific Reports, 9. NATURE PUBLISHING GROUP, Scientific Reports, Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019), Scientific Reports, 9:12524. Nature Publishing Group
- Accession number :
- edsair.doi.dedup.....5476eb75e1f2c866c5f3dd07f83a6e10