ArticleEuropean journal of human genetics : EJHG2013
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Article
- In silico analysis of several frequent SLX4 mutations appearing in human cancers.microPublication biology · 2024Article
- The Role of SUMO E3 Ligases in Signaling Pathway of Cancer Cells.International journal of molecular sciences · 2022Review
- Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.Cancers · 2020Article
- Expanding the spectrum of germline variants in cancer.Human genetics · 2017Article
- Update of the human and mouse Fanconi anemia genes.Human genomics · 2015Review
- Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.DNA repair · 2015Article
- FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.Human molecular genetics · 2015Article
- Alterations of DNA repair genes in the NCI-60 cell lines and their predictive value for anticancer drug activity.DNA repair · 2015Article
- Genetic counseling for Fanconi anemia: crosslinking disciplines.Journal of genetic counseling · 2014Review
- Hereditary breast cancer: ever more pieces to the polygenic puzzle.Hereditary cancer in clinical practice · 2013Article
- Assessment of SLX4 Mutations in Hereditary Breast Cancers.PloS one · 2013Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia is a genetically heterogeneous autosomal recessive disorder characterized by development abnormalities, bone marrow failure, and childhood cancers. Compelling evidence indicates a common genetic basis for FA and breast/ovarian cancer susceptibility. Recently, biallelic germ-line mutations in SLX4 have been demonstrated to cause a previously unknown FA subtype (FA-P). We address the role of SLX4/FANCP in breast/ovarian cancer susceptibility by conducting a comprehensive mutation scanning in 486 index cases from non-BRCA1/BRCA2 multiple-case breast and/or ovarian cancer families (non-BRCA1/2 families) from Spain. We detected one unequivocal loss-of-function mutation (p.Glu1517X). In addition, one missense change (p.Arg372Trp) predicted to be pathogenic by in silico analysis co-segregates with disease in one family. Overall, the study indicates that SLX4 mutation screening will have a very low impact (if any) in the genetic counseling of non-BRCA1/2 families.
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