期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 21, 期 8, 页码 883-886出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.268
关键词
hereditary breast cancer; FA; SLX4; FANCP; genetic testing
资金
- Instituto de Salud Carlos III, Fondo de Investigacion Sanitaria (FIS) [09/00859]
- Fundacion Mutua Madrilena (FMM) [FMM-08]
- Xunta de Galicia [10PXIB 9101297PR]
- Fundacion Mutua Madrilena [FMM-10]
- Red Tematica de Investigacion Cooperativa en Cancer
- Instituto de Salud Carlos III, Fondo Europeo de Desarrollo Regional [RETICC 06/0020/0021]
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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