title: BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association.
abstract: Mutations of the BRCA1/2 genes have been described in association with a number of malignancies including cancers of the breast, ovary, prostate and stomach, but have never been described in relation to gastrointestinal stromal tumours (GIST). We describe a patient with a BRCA2 8642del3insC mutation who developed prostate cancer, breast cancer and GIST. GIST has been shown to be associated with a number of malignancies, including some of the common BRCA1/2-related cancers, but it has never been associated with BRCA1/2 gene mutations. This report highlights the potential association between BRCA1/2 mutations and GIST, and aims to raise awareness for further genetic screening in GIST patients.
authors.affiliation: Department of Medicine, Northwestern University, Chicago, Illinois, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Waisbren
authors.affiliation: Department of Hematology/Oncology, Northwestern University, Chicago, Illinois, USA.
authors.forename: Regina
authors.initials: R
authors.lastname: Uthe
authors.affiliation: Department of Pathology, Northwestern University, Chicago, Illinois, USA.
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Siziopikou
authors.affiliation: Department of Hematology/Oncology, Northwestern University, Chicago, Illinois, USA.
authors.forename: Virginia
authors.initials: V
authors.lastname: Kaklamani
mesh_terms: D000368:Aged; D018906:Antineoplastic Agents, Alkylating / Q000008:administration & dosage; D018567:Breast Neoplasms, Male / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003520:Cyclophosphamide / Q000008:administration & dosage; D004317:Doxorubicin / Q000008:administration & dosage; D017809:Fatal Outcome; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D024522:Genes, BRCA2 / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020360:Neoadjuvant Therapy / Q000379:methods*; D017239:Paclitaxel / Q000008:administration & dosage; D011237:Predictive Value of Tests; D011471:Prostatic Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D018906:Antineoplastic Agents, Alkylating; D004317:Doxorubicin; D003520:Cyclophosphamide; D017239:Paclitaxel