Chiara Perfumo
Overview
Explore the profile of Chiara Perfumo including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
125
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0
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Recent Articles
1.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, et al.
Hum Mol Genet
. 2015 Jul;
24(18):5345-55.
PMID: 26130695
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due...
2.
Ricci M, Pennese L, Gismondi V, Perfumo C, Grasso M, Gennaro E, et al.
Eur J Hum Genet
. 2013 Sep;
22(2):280-2.
PMID: 24065114
The identification of women with a high probability of being carriers of pathogenic BRCA mutation is not straightforward and a major improvement would be the availability of markers of mutations...
3.
Monti P, Perfumo C, Bisio A, Ciribilli Y, Menichini P, Russo D, et al.
Mol Cancer Res
. 2011 Feb;
9(3):271-9.
PMID: 21343334
Germline TP53 mutations result in cancer proneness syndromes known as Li-Fraumeni, Li-Fraumeni-like, and nonsyndromic predisposition with or without family history. To explore genotype/phenotype associations, we previously adopted a functional classification...
4.
Russo D, Fronza G, Ottaggio L, Monti P, Perfumo C, Inga A, et al.
DNA Repair (Amst)
. 2010 May;
9(7):728-36.
PMID: 20471330
Me-lex is a sequence-specific alkylating agent synthesized to preferentially (>90%) generate N3-methyladenine (3-mA) in the minor groove of double-strand DNA, in A-T rich regions. In this paper we investigated the...
5.
Parodi S, Perfumo C, Garaventa A, Inga A, Mazzocco K, Defferrari R, et al.
Pediatr Blood Cancer
. 2010 Mar;
55(2):267-72.
PMID: 20232446
Background: MDM2 SNP309, characterised by a T-to-G substitution in the MDM2 promoter, is associated with higher gene expression compared to wild type and was recently found to be a negative...
6.
Perfumo C, Parodi S, Mazzocco K, Defferrari R, Inga A, Scarra G, et al.
Pediatr Blood Cancer
. 2009 Jun;
53(4):576-83.
PMID: 19526525
Background: MDM2 is a major negative regulator of p53 function and is directly regulated by MYCN in neuroblastoma (NB) cells. MDM2 SNP309, a T-to-G substitution in the MDM2 promoter associated...
7.
Monti P, Ciribilli Y, Russo D, Bisio A, Perfumo C, Andreotti V, et al.
DNA Repair (Amst)
. 2008 Jan;
7(3):431-8.
PMID: 18182332
The relative toxicity and mutagenicity of Me-lex, which selectively generates 3-methyladenine (3-MeA), is dependent on the nature of the DNA repair background. Base excision repair (BER)-defective S. cerevisiae strains mag1...
8.
Perfumo C, Bonelli L, Menichini P, Inga A, Gismondi V, Ciferri E, et al.
Digestion
. 2007 Mar;
74(3-4):228-35.
PMID: 17374954
Background: Few reports have investigated the association of two p53 polymorphisms (Arg72Pro and PIN3-A2) with colorectal cancer (CRC) risk, and no previous study has analyzed their role as susceptibility alleles...