Publications by authors named "Giulia Cini"

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Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
Ileana Wanda Carnevali, Giulia Cini, Laura Libera, Nora Sahnane, Sofia Facchi

Genes (Basel)· November 2023

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Universal testing for MSI/MMR status in colorectal and endometrial cancers to identify Lynch syndrome cases: state of the art in Italy and consensus recommendations from the Italian Association for the Study of Familial Gastrointestinal Tumors (A.I.F.E.G.).
Maria Grazia Tibiletti, Ileana Carnevali, Valentina Calò, Giulia Cini, Emanuela Lucci Cordisco

Eur J Cancer Prev· January 2022

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Daniel R Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Giulia Cini

J Natl Cancer Inst· January 2022

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Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Anastasia Dell'Elice, Giulia Cini, Mara Fornasarig, Franco Armelao, Daniela Barana

Mol Genet Genomic Med· December 2021

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Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.
Giulia Cini, Ileana Carnevali, Nora Sahnane, Anna Maria Chiaravalli, Anastasia Dell'Elice

Cancer Genet· June 2021

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Giulia Cini

Hum Mutat· September 2019

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Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.
Giulia Cini, Michele Quaia, Vincenzo Canzonieri, Mara Fornasarig, Roberta Maestro

Mol Genet Genomic Med· May 2019

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Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.
Ileana Carnevali, Laura Libera, Annamaria Chiaravalli, Nora Sahnane, Daniela Furlan, Giulia Cini

Int J Gynecol Cancer· September 2017

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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Julie Lecarpentier, Valentina Silvestri, Karoline B Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Giulia Cini

J Clin Oncol· July 2017

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Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
Giulia Cini, Massimo Mezzavilla, Lara Della Puppa, Elisa Cupelli, Alessio Fornasin

BMC Med Genet· February 2016

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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Giulia Cini

Hum Mol Genet· September 2015

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Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.
Giulia Cini, Ileana Carnevali, Michele Quaia, Anna Maria Chiaravalli, Paola Sala

Carcinogenesis· April 2015

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