title: The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report.
abstract: Fallopian tube carcinoma is a very rare tumor, comprising less than 1% of all gynecologic cancers and found primarily in postmenopausal women. With the disease being so uncommon, little is known about its causes and/or risk factors, and treatment approaches have been taken from experiences with ovarian cancer. We describe a case of a 42-year-old woman with fallopian tube cancer in which the founder mutation BRCA1c.2845insA was detected by mutational analysis. This same mutation was subsequently detected in four unaffected members of her family following genetic counseling. We report an association between this founder mutation and fallopian tube cancer as part of the hereditary breast cancer syndrome in an Asian population. A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed.
authors.affiliation: Department of Obstetrics & Gynecology, National University Hospital, Singapore.
authors.forename: Z
authors.initials: Z
authors.lastname: Damayanti
authors.forename: A B
authors.initials: AB
authors.lastname: Ali
authors.forename: P T C
authors.initials: PT
authors.lastname: Iau
authors.forename: A
authors.initials: A
authors.lastname: Ilancheran
authors.forename: J H
authors.initials: JH
authors.lastname: Sng
mesh_terms: D000231:Adenocarcinoma, Papillary / Q000235:genetics* / Q000628:therapy; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage*; D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D016190:Carboplatin / Q000008:administration & dosage; D005185:Fallopian Tube Neoplasms / Q000235:genetics* / Q000628:therapy; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D013509:Gynecologic Surgical Procedures; D006579:Heterozygote; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000628:therapy; D017239:Paclitaxel / Q000008:administration & dosage; D010375:Pedigree
chemical_list: D016190:Carboplatin; D017239:Paclitaxel