Maria Adelaide Caligo

MARIA ADELAIDE CALIGO is a PhD in Experimental Oncology and Tumor Morphology and specialist in Medical Genetics.
She is leading the Molecular Genetics Laboratory of Pisa University Hospital.

Her main research interest is Hereditary cancer in particular Breast Ovarian Cancer (HBOC).
She is studying the predisposition genes for HBOC since the first Breast cancer susceptibility gene, BRCA1, was identified by the group of Mark Skolnick University of Utah-USA, in 1995. She published the first paper about the mutational spectrum of BRCA1 gene in HBOC Italian Families. As results of an international collaborative BIOMED project of the EC titled “FamilialBreast Cancer: audit of a new development in medical practice in European centres” MAC
published together with the other participants several papers on a dedicated issue ofDisease Marker
-In 2008 , MAC was invited to be member of the staff for the 1st International School
on Molecular Oncology at the Medical School of Novosibirsk State University and she was a speaker to the “Molecular Oncology Conference” Novosibirsk
-In 2009 she became the Coordinator of The Interdepartmental Centre of Genetic Oncology, University Hospital of Pisa
-In 2013 MAC, together with several scientists from all over the world, published the results of the
“International Collaborative Oncology Gene-Environment studies” supported by the 7th framework
of EC paper on the role of modifiers of penetrance of BRCA1/2 mutations in Nature Genetics and
other journals.
In collaboration with the International Consortium ENIGMA (Evidence-based Network for the
Interpretation of Germline Mutant Alleles) she is now working on defining the pathogenic role of Italian population specific BRCA1/2 variants and with the International Consortium CIMBA she is studying the penetrance modifiers of BRCA1/2 and other breast cancer susceptibility genes.

The main research projects she was/is leading /involved in are:
– “Characterization of the pathological role of BRCA1 gene missense mutations”
Project supported by AIRC 2005-2007.
– “Sviluppo di test funzionali per la caratterizzazione di mutazioni missenso nei geni
per la suscettibilità al carcinoma della mammella e/o ovaio” Project supported by
Fondazione Cassa di Risparmio di Pisa 2008/2011.
– “BRCA1 role in repair of DNA damage: from the yeast Saccharomyces cerevisiae
genetics to human breast carcinogenesis” ITT 2010-2012.
– “Exploitation of yeast genetics to investigate the mechanisms of BRCA1-driven
tumorigenesis” funded by AIRC, 2014-2016.
– “Molecular epidemiology of male breast cancer in Tuscany: genetic alterations and
environmental factors” funded by ITT, 2014-2016.
– “Screening di mutazioni somatiche e germinali nei geni BRCA1 e BRCA2 in pazienti con cancro ovarico sieroso”finanziato da Astra Zeneca anno 2016
-“Caratterizzazione clinica delle varianti missenso nei geni BRCA1/2 per la valutazione del rischio di tumore al seno” Finanziato da Fondazione Pisa per la Scienza anni 2017-2020
-“Indagine genetica del recettore per gli androgeni nel carcinoma della mammella maschile” Susan Komen Italia anno 2017.
-Progetto Salute Regione Toscana “PART” in rete con ISPO triennio 2020-2022