|
1
|
De Rosa M, Pace U, Rega D, Costabile V,
Duraturo F, Izzo P and Delrio P: Genetics, diagnosis and management
of colorectal cancer (Review). Oncol Rep. 34:1087–1096. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Dodaro C, Grifasi C, Florio J, Santangelo
ML, Duraturo F, De Rosa M, Izzo P and Renda A: The role of mutation
analysis of the APC gene in the management of FAP patients. A
controversial issue. Ann Ital Chir. 87:321–325. 2016.PubMed/NCBI
|
|
3
|
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
|
|
4
|
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
|
|
5
|
Liccardo R, De Rosa M, Izzo P and Duraturo
F: Novel implications in molecular diagnosis of lynch syndrome.
Gastroenterol Res Pract. 2017:25950982017. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Giardiello FM, Allen JI, Axilbund JE,
Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA,
Kaltenbach T, et al: Guidelines on genetic evaluation and
management of Lynch syndrome: A consensus statement by the US
multi-society task force on colorectal cancer. Gastroenterology.
147:502–526. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Duraturo F, Liccardo R, Cavallo A, De Rosa
M, Rossi GB and Izzo P: Multivariate analysis as a method for
evaluating the pathogenicity of novel genetic MLH1 variants in
patients with colorectal cancer and microsatellite instability. Int
J Mol Med. 36:511–517. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
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 : PubMed/NCBI
|
|
9
|
Liccardo R, De Rosa M, Rossi GB,
Carlomagno N, Izzo P and Duraturo F: Incomplete segregation of MSH6
frameshift variants with phenotype of lynch syndrome. Int J Mol
Sci. 18:pii: E999. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Duraturo F, Liccardo R and Izzo P:
Coexistence of MLH3 germline variants in colon cancer patients
belonging to families with Lynch syndrome-associated brain tumors.
J Neurooncol. 129:577–578. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Gelsomino F, Barbolini M, Spallanzani A,
Pugliese G and Cascinu S: The evolving role of microsatellite
instability in colorectal cancer: A review. Cancer Treat Rev.
51:19–26. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
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
|
|
13
|
Cudia B, Liccardo R, Di Carlo G, Damiano
G, Ignazio A, Monte L, Izzo P and Duraturo F: Clinical and
anamnestic evaluation rôle for the diagnosis and treatment of
families affected by lynch syndrome. Case report and review of the
literature. Eur J Oncol. 19:265–271. 2014.
|
|
14
|
Van der Klift HM, Jansen AM, van der
Steenstraten N, Bik EC, Tops CM, Devilee P and Wijnen JT: Splicing
analysis for exonic and intronic mismatch repair gene variants
associated with Lynch syndrome confirms high concordance between
minigene assays and patient RNA analyses. Mol Genet Genomic Med.
3:327–345. 2015. View
Article : Google Scholar : PubMed/NCBI
|
|
15
|
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
|
|
16
|
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
|
|
17
|
Hu H, Li H, Jiao F, Han T, Zhuo M, Cui J,
Li Y and Wang L: Association of a novel point mutation in MSH2 gene
with familial multiple primary cancers. J Hematol Oncol.
10:1582017. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Kemmerich K, Dingler FA, Rada C and
Neuberger MS: Germline ablation of SMUG1 DNA glycosylase causes
loss of 5-hydroxymethyluracil- and UNG-backup uracil-excision
activities and increases cancer predisposition of Ung-/-Msh2-/-
mice. Nucleic Acids Res. 40:6016–6025. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Belcheva A, Irrazabal T, Robertson SJ,
Streutker C, Maughan H, Rubino S, Moriyama EH, Copeland JK,
Surendra A, Kumar S, et al: Gut microbial metabolism drives
transformation of MSH2-deficient colon epithelial cells. Cell.
158:288–299. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
De Rosa M, Rega D, Costabile V, Duraturo
F, Niglio A, Izzo P, Pace U and Delrio P: The biological complexity
of colorectal cancer: Insights into biomarkers for early detection
and personalized care. Therap Adv Gastroenterol. 9:861–886. 2016.
View Article : Google Scholar : PubMed/NCBI
|
