000			nab a22 7a 4500
999			_c17041 _d17041
003			PC17041
005			20221028131841.0
008			221028b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_91218 _aRueda Fernández, Daniel _eHematología y Hemoterapia
245	0	0	_aGermline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. _h[artículo]
260			_bGastroenterology, _c2015
300			_a149(3):563-6.
500			_aFormato Vancouver: Seguí N, Mina LB, Lázaro C, Sanz Pamplona R, Pons T, Navarro M et al. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. Gastroenterology. 2015 Sep;149(3):563-6.
501			_aPMID: 26052075
504			_aContiene 15 referencias
520			_aIdentification of genes associated with hereditary cancers facilitates management of patients with family histories of cancer. We performed exome sequencing of DNA from 3 individuals from a family with colorectal cancer who met the Amsterdam criteria for risk of hereditary nonpolyposis colorectal cancer. These individuals had mismatch repair-proficient tumors and each carried nonsense variant in the FANCD2/FANCI-associated nuclease 1 gene (FAN1), which encodes a nuclease involved in DNA inter-strand cross-link repair. We sequenced FAN1 in 176 additional families with histories of colorectal cancer and performed in vitro functional analyses of the mutant forms of FAN1 identified. We detected FAN1 mutations in approximately 3% of families who met the Amsterdam criteria and had mismatch repair-proficient cancers with no previously associated mutations. These findings link colorectal cancer predisposition to the Fanconi anemia DNA repair pathway, supporting the connection between genome integrity and cancer risk.
710			_9297 _aServicio de Hematología y Hemoterapia
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17041.pdf _ySolicitar documento
942			_2ddc _cART _n0