Giulia Cini

Aviano, 33081, Italy

Last Updated: 09/26/2026

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Found 13 publications

MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.

MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.

Journal: Genes

Published: September 26, 2023

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Journal: Molecular genetics & genomic medicine

Published: March 26, 2021

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.).

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.).

Journal: European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)

Published: March 26, 2021

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Journal: Journal of the National Cancer Institute

Published: February 16, 2021

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.

Journal: Cancer genetics

Published: August 07, 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Journal: Human mutation

Published: January 30, 2019

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Journal: Molecular genetics & genomic medicine

Published: November 14, 2018

Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.

Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.

Journal: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society

Published: May 05, 2017

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: April 28, 2017

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Journal: BMC medical genetics

Published: March 19, 2015

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Journal: Human molecular genetics

Published: December 01, 2014

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Journal: Carcinogenesis

Published: October 22, 2014

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Last Updated: 09/26/2026