|
1
|
De Rosa M, Dourisboure RJ, Morelli G,
Graziano A, Gutiérrez A, Thibodeau S, Halling K, Avila KC, Duraturo
F, Podesta EJ, et al: First genotype characterization of
Argentinean FAP patients: Identification of 14 novel APC mutations.
Hum Mutat. 23:523–524. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
De Rosa M, Galatola M, Borriello S,
Duraturo F, Masone S and Izzo P: Implication of adenomatous
polyposis coli and MUTYH mutations in familial colorectal
polyposis. Dis Colon Rectum. 52:268–274. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Lynch PM: The hMSH2 and hMLH1 genes in
hereditary nonpolyposis colorectal cancer. Surg Oncol Clin N Am.
18:611–624. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Duraturo F, Liccardo R, Cavallo A, De Rosa
M, Grosso M and Izzo P: Association of low-risk MSH3 and MSH2
variant alleles with Lynch syndrome: Probability of synergistic
effects. Int J Cancer. 129:1643–1650. 2011. View Article : Google Scholar
|
|
5
|
Barrow E, Hill J and Evans DG: Cancer risk
in Lynch Syndrome. Fam Cancer. 12:229–240. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Vasen HF, Watson P, Mecklin JP and Lynch
HT: New clinical criteria for hereditary nonpolyposis colorectal
cancer (HNPCC, Lynch syndrome) proposed by the International
Collaborative group on HNPCC. Gastroenterology. 116:1453–1456.
1999. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Wolf B, Gruber S, Henglmueller S, Kappel
S, Bergmann M, Wrba F and Karner-Hanusch J: Efficiency of the
revised Bethesda guidelines (2003) for the detection of mutations
in mismatch repair genes in Austrian HNPCC patients. Int J Cancer.
118:1465–1470. 2006. View Article : Google Scholar
|
|
8
|
Wang L, Cunningham JM, Winters JL,
Guenther JC, French AJ, Boardman LA, Burgart LJ, McDonnell SK,
Schaid DJ and Thibodeau SN: BRAF mutations in colon cancer are not
likely attributable to defective DNA mismatch repair. Cancer Res.
63:5209–5212. 2003.PubMed/NCBI
|
|
9
|
Domingo E, Laiho P, Ollikainen M, Pinto M,
Wang L, French AJ, Westra J, Frebourg T, Espín E, Armengol M, et
al: BRAF screening as a low-cost effective strategy for simplifying
HNPCC genetic testing. J Med Genet. 41:664–668. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Ng PC and Henikoff S: SIFT: Predicting
amino acid changes that affect protein function. Nucleic Acids Res.
31:3812–3814. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Ramensky V, Bork P and Sunyaev S: Human
non-synonymous SNPs: Server and survey. Nucleic Acids Res.
30:3894–3900. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Rost B, Yachdav G and Liu J: The
PredictProtein server. Nucleic Acids Res. 32:W321–W326. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Desmet FO, Hamroun D, Lalande M,
Collod-Béroud G, Claustres M and Béroud C: Human Splicing Finder:
An online bioinformatics tool to predict splicing signals. Nucleic
Acids Res. 37:e672009. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Costabile V, Duraturo F, Delrio P, Rega D,
Pace U, Liccardo R, Rossi GB, Genesio R, Nitsch L, Izzo P, et al:
Lithium chloride induces mesenchymal to epithelial reverting
transition in primary colon cancer cell cultures. Int J Oncol.
46:1913–1923. 2015.PubMed/NCBI
|
|
15
|
Woods MO, Williams P, Careen A, Edwards L,
Bartlett S, McLaughlin JR and Younghusband HB: A new variant
database for mismatch repair genes associated with Lynch syndrome.
Hum Mutat. 28:669–673. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Genuardi M, Viel A, Bonora D, Capozzi E,
Bellacosa A, Leonardi F, Valle R, Ventura A, Pedroni M, Boiocchi M,
et al: Characterization of MLH1 and MSH2 alternative splicing and
its relevance to molecular testing of colorectal cancer
susceptibility. Hum Genet. 102:15–20. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Mester JL, Moore RA and Eng C: PTEN
germline mutations in patients initially tested for other
hereditary cancer syndromes: Would use of risk assessment tools
reduce genetic testing? Oncologist. 18:1083–1090. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Galatola M, Paparo L, Duraturo F, Turano
M, Rossi GB, Izzo P and De Rosa M: Beta catenin and cytokine
pathway dysregulation in patients with manifestations of the ‘PTEN
hamartoma tumor syndrome’. BMC MedGenet. 13:282012.
|
|
19
|
Paparo L, Rossi GB, Delrio P, Rega D,
Duraturo F, Liccardo R, Debellis M, Izzo P and De Rosa M:
Differential expression of PTEN gene correlates with phenotypic
heterogeneity in three cases of patients showing clinical
manifestations of PTEN hamartoma tumour syndrome. Hered Cancer Clin
Pract. 11:82013. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Lynch HT and Lynch J: Lynch syndrome:
Genetics, natural history, genetic counseling, and prevention. J
Clin Oncol. 18(Suppl): 19S–31S. 2000.PubMed/NCBI
|
|
21
|
Galatola M, Miele E, Strisciuglio C,
Paparo L, Rega D, Delrio P, Duraturo F, Martinelli M, Rossi GB,
Staiano A, et al: Synergistic effect of interleukin-10-receptor
variants in a case of early-onset ulcerative colitis. World J
Gastroenterol. 19:8659–8670. 2013. View Article : Google Scholar :
|
|
22
|
Duraturo F, Cavallo A, Liccardo R, Cudia
B, De Rosa M, Diana G and Izzo P: Contribution of large genomic
rearrangements in Italian Lynch syndrome patients: characterization
of a novel alu-mediated deletion. Biomed Res Int. 2013:2198972013.
View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Rahner N, Friedrichs N, Wehner M, Steinke
V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P and
Walldorf C: Nine novel pathogenic germline mutations in MLH1, MSH2,
MSH6 and PMS2 in families with Lynch syndrome. Acta Oncol.
46:763–769. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Lipkin SM, Wang V, Stoler DL, Anderson GR,
Kirsch I, Hadley D, Lynch HT and Collins FS: Germline and somatic
mutation analyses in the DNA mismatch repair gene MLH3: evidence
for somatic mutation in colorectal cancers. Hum Mutat. 17:389–396.
2001. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Doss CG and Sethumadhavan R: Investigation
on the role of nsSNPs in HNPCC genes - a bioinformatics approach. J
Biomed Sci. 16:422009. View Article : Google Scholar
|
|
26
|
Cartegni L, Chew SL and Krainer AR:
Listening to silence and understanding nonsense: exonic mutations
that affect splicing. Nat Rev Genet. 3:285–298. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
De Rosa M, Morelli G, Cesaro E, Duraturo
F, Turano M, Rossi GB, Delrio P and Izzo P: Alternative splicing
and nonsense-mediated mRNA decay in the regulation of a new
adenomatous polyposis coli transcript. Gene. 395:8–14. 2007.
View Article : Google Scholar : PubMed/NCBI
|
