Affiliation: University of Turin
- A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanomaSimona Frigerio
Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, Milan 20133, Italy
BMC Med Genet 15:59. 2014....
- Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
- Exploring the link between MORF4L1 and risk of breast cancerGriselda Martrat
Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
Breast Cancer Res 13:R40. 2011..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
- Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean Pierre Bayley
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
BMC Med Genet 7:1. 2006..Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II)...
- Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrierB Pasini
Dipartimento di Genetica, Biologia e Biochimica, Universita di Torino, Torino, Italy
J Exp Clin Cancer Res 21:23-9. 2002..Aim of this work is to underline validity and limits of available tools and their appropriate use in the daily practice...
- SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromesB Pasini
Department of Genetics, Biology and Biochemistry, University of Turin, Via Santena 19, Turin 10126, Italy
J Intern Med 266:19-42. 2009....
- The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic riskF Podo
Istituto Superiore di Sanita, Laboratorio di Biologia Cellulare, Roma, Italy
J Exp Clin Cancer Res 21:115-24. 2002..These preliminary results confirmed that MRI is a very useful tool to screen subjects at high genetic risk for breast carcinoma, not only in pre-, but also in post-menopausal age, with a low probability of false positive cases...
- Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studiesA Antoniou
Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 72:1117-30. 2003..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers...
- Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studiesA C Antoniou
J Med Genet 42:602-3. 2005..These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population...
- BMRI in early detection of breast cancer in patients with increased genetic risk: our preliminary resultsG Trecate
Unit of Diagnostic Radiology A, Istituto Nazionale Tumori, Milan, Italy
J Exp Clin Cancer Res 21:125-30. 2002..High spatial resolution and no breast density influence can give more detailed information about smaller lesions and the right extent of the disease...
- Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian familyC Arduino
Gut 54:1663-4. 2005
- Cancer genetic counsellingP Mandich
Ann Oncol 16:171. 2005
- CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutationG Della Torre
Department of Experimental Oncology, Istituto Nazionale Tumori, Via Venezian, 1 20133 Milan, Italy
Br J Cancer 85:836-44. 2001..In addition, they indicate the need for a combination of functional assays to determine the pathogenetic nature of new CDKN2A mutations...
- Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study GroupS A Narod
Centre for Research on Women s Health, Women s College Hospital, University of Toronto, Ontario, Canada
Lancet 356:1876-81. 2000..Tamoxifen protects against contralateral breast cancer in the general population, but whether it protects against contralateral breast cancer in BRCA1 or BRCA2 mutation carriers is not known...
- Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's diseaseG Romeo
Istituto Giannina Gaslini, Genova Quarto, Italy
Nature 367:377-8. 1994..Our results support the hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system...