G. Cini

发表

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

A. Viel, M. Fornasarig, M. Quaia, 2019, Molecular genetics & genomic medicine.

Association of SULT1A1 Arg213His polymorphism with male breast cancer risk: results from a multicenter study in Italy

P. Radice, P. Peterlongo, S. Manoukian, 2014, Breast Cancer Research and Treatment.

Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome

F. Ghezzi, A. Viel, F. Sessa, 2017, International Journal of Gynecologic Cancer.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

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

M. Mezzavilla, A. Viel, R. Maestro, 2016, BMC Medical Genetics.

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

A. Viel, R. Maestro, S. Radovic, 2021, Cancer genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

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

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

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

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

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

A. Viel, M. Quaia, R. Maestro, 2015, Carcinogenesis.

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

A. Viel, M. Fornasarig, M. Quaia, 2021, Molecular genetics & genomic medicine.