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Items: 1 to 20 of 208

1.

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S.

Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11.

2.

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.

Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N; Breast Cancer Susceptibility Collaboration.

Cancer Res. 2003 Dec 15;63(24):8596-9.

3.

Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM.

Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5.

4.

Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.

García MJ, Fernández V, Osorio A, Barroso A, Fernández F, Urioste M, Benítez J.

Carcinogenesis. 2009 Nov;30(11):1898-902. doi: 10.1093/carcin/bgp218. Epub 2009 Sep 8.

PMID:
19737859
5.

FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway.

Gordon SM, Alon N, Buchwald M.

J Biol Chem. 2005 Oct 28;280(43):36118-25. Epub 2005 Aug 26.

6.

Analysis of a FANCE Splice Isoform in Regard to DNA Repair.

Bouffard F, Plourde K, Bélanger S, Ouellette G, Labrie Y, Durocher F.

J Mol Biol. 2015 Sep 25;427(19):3056-73. doi: 10.1016/j.jmb.2015.08.004. Epub 2015 Aug 12.

PMID:
26277624
7.

Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.

Yamashita T, Nakahata T.

Int J Hematol. 2001 Jul;74(1):33-41. Review.

PMID:
11530803
8.

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.

Hussain S, Witt E, Huber PA, Medhurst AL, Ashworth A, Mathew CG.

Hum Mol Genet. 2003 Oct 1;12(19):2503-10. Epub 2003 Aug 5.

PMID:
12915460
9.

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, Durocher F; INHERIT BRCAs.

J Hum Genet. 2008;53(7):579-91. doi: 10.1007/s10038-008-0285-z. Epub 2008 Apr 15.

PMID:
18414782
10.

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L.

Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12.

PMID:
28912018
11.

The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.

Polito D, Cukras S, Wang X, Spence P, Moreau L, D'Andrea AD, Kee Y.

J Biol Chem. 2014 Mar 7;289(10):7003-10. doi: 10.1074/jbc.M113.533976. Epub 2014 Jan 22.

12.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S.

Genet Med. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24. Erratum in: Genet Med. 2014 Dec;16(12):988-9.

13.

Functional analysis of Fanconi anemia mutations in China.

Li N, Ding L, Li B, Wang J, D'Andrea AD, Chen J.

Exp Hematol. 2018 Oct;66:32-41.e8. doi: 10.1016/j.exphem.2018.07.003. Epub 2018 Jul 19.

PMID:
30031030
14.

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.

PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

15.

The genetics of FANCC and FANCG in familial pancreatic cancer.

Rogers CD, van der Heijden MS, Brune K, Yeo CJ, Hruban RH, Kern SE, Goggins M.

Cancer Biol Ther. 2004 Feb;3(2):167-9. Epub 2004 Feb 1.

PMID:
14726700
16.

Fanconi anaemia and cancer: an intricate relationship.

Nalepa G, Clapp DW.

Nat Rev Cancer. 2018 Mar;18(3):168-185. doi: 10.1038/nrc.2017.116. Epub 2018 Jan 29. Review.

PMID:
29376519
17.

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL.

Eur J Med Genet. 2018 Mar;61(3):130-133. doi: 10.1016/j.ejmg.2017.11.003. Epub 2017 Nov 10. Review.

PMID:
29133208
18.

Fanconi anemia group A and C double-mutant mice: functional evidence for a multi-protein Fanconi anemia complex.

Noll M, Battaile KP, Bateman R, Lax TP, Rathbun K, Reifsteck C, Bagby G, Finegold M, Olson S, Grompe M.

Exp Hematol. 2002 Jul;30(7):679-88.

PMID:
12135664
19.
20.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M; University of Washington Centre for Mendelian Genomics; FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA.

Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.

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