title: Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases.
abstract: The clinical and pathological characteristics and prognostic outcome of patients with hereditary breast/ovarian cancer and BRCA2 mutations are poorly known. Hence, the present study aimed to correlate the BRCA2 mutation status with clinical characteristics and overall survival of 102 breast/ovarian cancer patients in Kerala, South India. All the coding regions of BRCA2 genes were PCR amplified and analyzed for mutations employing Conformation Sensitive Gel Electrophoresis and characterized by sequencing. The ORs with 95% Cls was computed to assess the association between BRCA2 gene mutation status and clinicopathologic characteristics of breast cancer patients. Survival curves were generated according to Kaplan-Meier method using Log Rank test and Cox proportional hazards regression method. Out of the 102 breast/ovarian cancer patients with known BRCA2 status, 19 were BRCA2 mutation positive. In survival analysis, BRCA2 gene mutation status (P = 0.02) and clinicopathologic parameters such as tumour size (p = 0.01), metastasis (P = 0.01), disease stage (P = 0.03) and laterality (P = 0.02) were significantly associated with poor prognosis of breast cancer patients. Patients with hereditary breast/ovarian cancer resulting from a BRCA2 mutation have been conclusively shown to have a worse survival prognosis compared to the non mutated group of patients.
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram-695011, Kerala, India. vanisyamala@yahoo.com
authors.forename: Vani
authors.initials: V
authors.lastname: Syamala
authors.forename: Volga S
authors.initials: VS
authors.lastname: Syamala
authors.forename: Leelakumari
authors.initials: L
authors.lastname: Sreeja
authors.forename: Praveenkumar B
authors.initials: PB
authors.lastname: Raveendran
authors.forename: R V
authors.initials: RV
authors.lastname: Vijayalekshmi
authors.forename: V R
authors.initials: VR
authors.lastname: Sheeja
authors.forename: S
authors.initials: S
authors.lastname: Santhi
authors.forename: Ratheesan
authors.initials: R
authors.lastname: Kuttan
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Abraham
authors.forename: Ravindran
authors.initials: R
authors.lastname: Ankathil
mesh_terms: D000328:Adult; D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007194:India; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D011379:Prognosis; D015996:Survival Rate
chemical_list: D024682:BRCA2 Protein