Concetta Santonocito1, Margherita Scapaticci2, Donatella Guarino1, Andrea Bartolini3, Angelo Minucci1, Paola Concolino1, Giovanni Scambia4, Ida Paris4, Ettore Capoluongo1. 1. Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome, Italy. 2. Laboratory of Clinical Molecular Biology, Department of Biochemistry & Clinical Biochemistry, Catholic University of the Sacred Heart, Rome, Italy; Laboratory Medicine Department, San Camillo Hospital, Treviso, Italy. Electronic address: scapaticci.m@gmail.com. 3. Laboratory Medicine Department, San Camillo Hospital, Treviso, Italy. 4. Gynecology Oncology Unit, Catholic University of the Sacred Heart, Rome, Italy.
Abstract
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified. Next-generation sequencing (NGS) technology is actually the most powerful tool for the discovering of causative mutations and novel disease genes, moreover it allows to make a rapid diagnosis of genetic variants giving fast, inexpensive and detailed genetic information. MATERIAL AND METHODS: In this study, we report the screening of BRCA1 and BRCA2 genes on 1400 consecutive Caucasian patients with breast and/or ovarian cancer history or family risk, attending the oncogenetic ambulatory at the Foundation Policlinico Agostino Gemelli in Rome. RESULTS: We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC). CONCLUSION: Data regarding novel variants can provide useful information not only at epidemiological but also at clinical level, allowing for the better managing of breast and ovarian cancer patients and their family members.
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified. Next-generation sequencing (NGS) technology is actually the most powerful tool for the discovering of causative mutations and novel disease genes, moreover it allows to make a rapid diagnosis of genetic variants giving fast, inexpensive and detailed genetic information. MATERIAL AND METHODS: In this study, we report the screening of BRCA1 and BRCA2 genes on 1400 consecutive Caucasian patients with breast and/or ovarian cancer history or family risk, attending the oncogenetic ambulatory at the Foundation Policlinico Agostino Gemelli in Rome. RESULTS: We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC). CONCLUSION: Data regarding novel variants can provide useful information not only at epidemiological but also at clinical level, allowing for the better managing of breast and ovarian cancerpatients and their family members.
Keywords:
BRCA1 gene; BRCA2 gene; Hereditary breast and ovarian cancer syndrome (HBOC); Next-generation sequencing (NGS); Variant of uncertain significance (VUS)
Authors: Angelo Minucci; Giovanni Scambia; Maria De Bonis; Elisa De Paolis; Concetta Santonocito; Anna Fagotti; Ettore Capoluongo; Paola Concolino; Andrea Urbani Journal: Mol Biol Rep Date: 2020-12-12 Impact factor: 2.316