Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms

References

• Xu LL, Gu KS. Clinical retrospective analysis of cases with multiple primary malignant neoplasms. Genet Mol Res. 2014;13:9271–9284.
   PubMed Web of Science ®Google Scholar
• Xu Y, Zhang C, Liang H, et al. Dishevelled 1, a pivotal positive regulator of the Wnt signalling pathway, mediates 5-fluorouracil resistance in HepG2 cells. Artif Cells Nanomed Biotechnol. 2018;46:1–9.
   Web of Science ®Google Scholar
• Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25:2078–2079.
   PubMed Web of Science ®Google Scholar
• Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.
   PubMed Web of Science ®Google Scholar
• Boeva V, Popova T, Bleakley K, et al. Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics. 2012;28:423–425.
   PubMed Web of Science ®Google Scholar
• Chen K, Wallis JW, McLellan MD, et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods. 2009;6:677–681.
   PubMed Web of Science ®Google Scholar
• Buchanan CC, Torstenson ES, Bush WS, et al. A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data. J Am Med Inform Assoc. 2012;19:289–294.
   PubMed Web of Science ®Google Scholar
• Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812.
   PubMed Web of Science ®Google Scholar
• Sondka Z, Bamford S, Cole CG, et al. The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers. Nat Rev Cancer. 2018;18:696–705.
   PubMed Web of Science ®Google Scholar
• Rahman N. Realizing the promise of cancer predisposition genes. Nature. 2014;505:302–308.
   PubMed Web of Science ®Google Scholar
• Gast AC, Metzger J, Tipold A, et al. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Veterinary Res. 2016;12:225.
   PubMed Web of Science ®Google Scholar
• Wen S, Wang X, Wang Y, et al. Nucleoside diphosphate kinase 2 confers acquired 5-fluorouracil resistance in colorectal cancer cells. Artif Cells, Nanomed Biotechnol. 2018;23:1–10.
   Google Scholar
• Jiao X, Sherman BT, Huang da W, et al. DAVID-WS: a stateful web service to facilitate gene/protein list analysis. Bioinformatics. 2012;28:1805.
   PubMed Web of Science ®Google Scholar
• Shannon P, Markiel A, Ozier O, et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res. 2003;13:2498–2504.
   PubMed Web of Science ®Google Scholar
• Szklarczyk D, Morris JH, Cook H, et al. The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible. Nucleic Acids Res. 2017;4;45:D362–D368.
   Web of Science ®Google Scholar
• Demandante CG, Troyer DA, Miles TP. Multiple primary malignant neoplasms: case report and a comprehensive review of the literature. Am J Clin Oncol. 2003;26:79–83.
   PubMed Web of Science ®Google Scholar
• Stecklein SR, Jensen RA. Identifying and exploiting defects in the Fanconi anemia/BRCA pathway in oncology. Transl Res. 2012;160:178–197.
   PubMed Web of Science ®Google Scholar
• Haitjema A, Brandt BW, Ameziane N, et al. A protein prioritization approach tailored for the FA/BRCA pathway. PLoS One. 2013;8:e62017.
   PubMed Web of Science ®Google Scholar
• Chen P, Li J, Jiang HG, et al. Curcumin reverses cisplatin resistance in cisplatin-resistant lung caner cells by inhibiting FA/BRCA pathway. Tumor Biol. 2015;36:3591–3599.
   PubMedGoogle Scholar
• Flower KJ, Shenker NS, El-Bahrawy M, et al. DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer. Epigenetics. 2015;10:1121–1132.
   PubMed Web of Science ®Google Scholar
• Haitjema A, Mol BM, Kooi IE, et al. Coregulation of FANCA and BRCA1 in human cells. SpringerPlus. 2014;3:381.
   PubMedGoogle Scholar
• Litman R, Peng M, Jin Z, et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell. 2005;8:255–265.
   PubMed Web of Science ®Google Scholar
• Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet. 2007;8:735–748.
   PubMed Web of Science ®Google Scholar
• D'Andrea AD. The Fanconi Anemia/BRCA signaling pathway: disruption in cisplatin-sensitive ovarian cancers. Cell Cycle. 2003;2:290–292.
   PubMed Web of Science ®Google Scholar
• Oh SE, Kim SH, Kim MS, et al. Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient. Obstet Gynecol Sci. 2015;58:175.
   PubMedGoogle Scholar
• Degrolard-Courcet E, Sokolowska J, Padeano MM, et al. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene. Eur J Hum Genet. 2014;22:979–987.
   PubMed Web of Science ®Google Scholar
• Neveling K, Kalb R, Florl AR, et al. Disruption of the FA/BRCA pathway in bladder cancer. Cytogenet Genome Res. 2007;118:166–176.
   PubMed Web of Science ®Google Scholar
• Esteban-Jurado C, Franch ES, Munoz J, et al. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. Eur J Hum Genet. 2016;24:1501–1505.
   PubMed Web of Science ®Google Scholar
• Hoeijmakers JH. Genome maintenance mechanisms are critical for preventing cancer as well as other aging-associated diseases. Mech Ageing Dev. 2007;128:460–462.
   PubMed Web of Science ®Google Scholar
• Rodriguez A, Torres L, Juarez U, et al. Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process. Theoretical Biol Med Model. 2015;12:19.
   PubMed Web of Science ®Google Scholar
• Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297:606–609.
   PubMed Web of Science ®Google Scholar