Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Catucci, Irene ^a,b   Colombo, Mara ^b   Verderio, Paolo ^b   Bernard, Loris ^c   Ficarazzi, Filomena ^a   Mariette, Frederique ^a   Barile, Monica ^c   Peissel, Bernard ^b   Cattaneo, Elisa ^b,d   Manoukian, Siranoush ^b   Radice, Paolo ^a,b   Peterlongo, Paolo ^a,b  

^a FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CANCER RISK; EXON; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENE SEQUENCE; GERMLINE MUTATION; HUMAN; INTRON; ITALY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; SLX4 GENE; BREAST TUMOR; DNA SEQUENCE; FAMILY HEALTH; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYLOGENY; STATISTICAL MODEL;

RECOMBINASE; SLX4 PROTEIN, HUMAN;

BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MODELS, STATISTICAL; MUTATION; PHYLOGENY; RECOMBINASES; SEQUENCE ANALYSIS, DNA;

EID: 84857617430     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0031038     Document Type: Article

References (26)

1. Turnbull C, Rahman N, (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 9: 321-345.
2. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M, (2010) Genetic susceptibility to breast cancer. Mol Oncol 4: 174-191.
3. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, et al. (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297: 606-609.
4. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, et al. (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38: 1239-1241.
5. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, et al. (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39: 165-167.
6. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42: 410-414.
7. Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, et al. (2011) SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet 43: 138-141.
8. Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, et al. (2011) Mutations of the SLX4 gene in Fanconi anemia. Nat Genet 43: 142-146.
9. Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, et al. (2007) Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. Eur J Cancer 43: 601-606.
10. Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, et al. (2010) Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases. Hum Mutat 31: E1052-1057.
11. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29: 308-311.
12. Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
13. Reese MG, Eeckman FH, Kulp D, Haussler D, (1997) Improved splice site detection in Genie. J Comput Biol 4: 311-323.
14. Brunak S, Engelbrecht J, Knudsen S, (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220: 49-65.
15. Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, et al. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24: 3439-3452.
16. Brendel V, Xing L, Zhu W, (2004) Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus. Bioinformatics 20: 1157-1169.
17. Pertea M, Lin X, Salzberg SL, (2001) GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 29: 1185-1190.
18. Yeo G, Burge GB, (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-394.
19. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
20. Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
21. Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R, (2009) Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 30: 1237-1244.
22. Hollestelle A, Wasielewski M, Martens JW, Schutte M, (2010) Discovering moderate-risk breast cancer susceptibility genes. Curr Opin Genet Dev 20: 268-276.
23. Papi L, Putignano AL, Congregati C, Piaceri I, Zanna I, et al. (2010) A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer 9: 181-185.
24. Balia C, Sensi E, Lombardi G, Roncella M, Bevilacqua G, et al. (2010) PALB2: a novel inactivating mutation in a Italian breast cancer family. Fam Cancer 9: 531-536.
25. Peterlongo P, Catucci I, Pasquini G, Verderio P, Peissel B, et al. (2010) PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat 126: 825-828.
26. Landwehr R, Bogdanova NV, Antonenkova N, Meyer A, Bremer M, et al. (2011) Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Res Treat 130: 1021-1028.