title: A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer.
abstract: A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequencing of DNA extracted from the lymphocytes showed exactly the same 4843delC frameshift mutation only in the brother. In conclusion, the characterization of this mutation could help in the identification of a founder mutation of sicilian area and this may provide significant advantages for genetic counselling.
authors.affiliation: Department of Oncology, Regional Reference Center for the Biomolecular Characterization of Neoplasms and Genetic Screening of Hereditary Tumors, Università di Palermo , Palermo, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Calò
authors.forename: Valentina
authors.initials: V
authors.lastname: Agnese
authors.forename: Grazia
authors.initials: G
authors.lastname: Gargano
authors.forename: Simona
authors.initials: S
authors.lastname: Corsale
authors.forename: Valter
authors.initials: V
authors.lastname: Gregorio
authors.forename: Sandra
authors.initials: S
authors.lastname: Cascio
authors.forename: Patrizia
authors.initials: P
authors.lastname: Cammareri
authors.forename: Loredana
authors.initials: L
authors.lastname: Bruno
authors.forename: Claudia
authors.initials: C
authors.lastname: Augello
authors.forename: Arianna
authors.initials: A
authors.lastname: Gullo
authors.forename: Pasqua Sandra
authors.initials: PS
authors.lastname: Sisto
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Badalamenti
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Valerio
authors.forename: Liborio
authors.initials: L
authors.lastname: Napoli
authors.forename: Nicola
authors.initials: N
authors.lastname: Gebbia
authors.forename: Viviana
authors.initials: V
authors.lastname: Bazan
authors.forename: Antonio
authors.initials: A
authors.lastname: Russo
mesh_terms: D000328:Adult; D003536:Cystadenocarcinoma / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D019398:Genes, BRCA1 / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D012802:Sicily / Q000453:epidemiology