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List of works by Irene Catucci

Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases

scientific article

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

scientific article

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2

scientific article published on 13 September 2016

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

scientific article published on 24 August 2017

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

scientific article published on 24 December 2010

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

article

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 6 January 2009

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

scientific article

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

scientific article published on 22 July 2010

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The SNP rs895819 in miR-27a is not associated with familial breast cancer risk in Italians

article

Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

scientific article

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