A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient.

Abstract

Fallopian tube cancer (FTC) accounts for 0.1-0.5% of all gynaecological malignancies, so that very few studies have demonstrated a significant linkage between this cancer type and BRCA1/BRCA2 mutations. We report the identification of a novel germline mutation (Q3034R) in BRCA2 gene in a 41-year-old patient. The nucleotide change (CAG > CGG) abolishes a DdeI restriction site, making genotype identification rapid and inexpensive. Our findings support the hypothesis that the primary FTC should be considered, at least in a subset of patients, as a BRCA2-associated tumor. Genetic counselling could result, in these cases, in early diagnosis of genetically predisposed individuals.

• Authors: Francesco Baudi, Loredana De Paola, Barbara Quaresima, Maria Concetta Faniello, Giuseppina Fersini, Simona Gasparro, Giuliano Fabiani, Lorenza Driul, Angela D'Elia, Sara Casarsa, Diego Marchesoni, Giuseppe Damante, Giovanni Cuda, Francesco Costanzo, Salvatore Venuta
• Journal: Cancer letters (Cancer Lett) Vol. 191 Issue 2 Pg. 211-4 (Mar 10 2003) ISSN: 0304-3835 [Print] Ireland
• PMID: 12618335 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2002 Elsevier Science Ireland Ltd.

Chemical References

• endodeoxyribonuclease DdeI
• Deoxyribonucleases, Type II Site-Specific

Topics

• Adult
• Deoxyribonucleases, Type II Site-Specific (metabolism)
• Fallopian Tube Neoplasms (genetics, pathology)
• Female
• Genes, BRCA2
• Genetic Predisposition to Disease
• Germ-Line Mutation
• Humans
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Prognosis