Irene Catucci

<i>PALB2</i>, <i>CHEK2</i> and <i>ATM</i> rare variants and cancer risk: data from COGS

Melissa C. Southey, Robert Winqvist, Katri Pylkäs et al. · Journal of Medical Genetics · 2016 · 215 citations · Full text

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

Irene Catucci, Rongxi Yang, Paolo Verderio et al. · Human Mutation · 2009 · 154 citations · Full text

Genetics, Low-penetrance Alleles, Genetic Epidemiology +17

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

Francisco Javier Gracia-Aznárez, María Victoria Fernández, Guillermo Pita et al. · PLoS ONE · 2013 · 98 citations · Full text

Breast Oncology, Oncology, Medicine +9

<i>FANCM</i>c.5791C&gt;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 et al. · Human Molecular Genetics · 2015 · 93 citations · Full text

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

Irene Catucci, Ana Osório, Brita Arver et al. · Genetics in Medicine · 2017 · 91 citations · Full text