Abstract P2-14-06: Characterization of risk factors in breast cancer young adult patients

作者: G Encinas , MDPE Diz , EC Lyra , MLH Katayama , FS Pasini

DOI: 10.1158/0008-5472.SABCS13-P2-14-06

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摘要: Background: Breast cancer diagnosis in the age group of 20-34 years represents 4% breast cases diagnosed at all ages Sao Paulo state, Brazil. Risk factors this patients are little understood, especially those not reporting familial history breast/ovarian syndrome (BOCS). Identification predisposing and BRCA1/2 mutations (mut) young Brazilian may contribute to characterize women with increased risk cancer. Objective: Characterize for adult germline genes. Methodology: Forty-five 18-35 were interviewed using a comprehensive questionnaire. Genomic DNA was extracted from peripheral blood mut screened by Sanger sequencing coding sequences, analyzed through Mutation Surveyor v.3.20 searched BIC Database, LOVD, LOVD-IARC UMD. Results: Mean time 33 y (24-35y); mean menarche 13 (8-19y); 32 (71.1%) had least one born child, median first pregnancy 22 years; 86.7% never smoked; 71.1% no regular alcoholic drinkers; body mass index 27.14 (overweight). Most invasive ductal carcinoma (91.1%); grades II or III (95.5%); ER/PR positive (57.8%); triple-negative (TN: 31.1%) HER2 (17.8%). Among them, 22.2% reported (NCCN criteria BOCS). Deleterious mutation genes found 17.8% (BRCA1, n = 3; BRCA2, 5). 10 35 BOCS history, 3 (30%) 5 (14.3%) respectively, BRCA1/2mut. All BRCA1mut TN tumors; BRCA2mut (60%), (20%) tumors (20%). two following factors: early ( 16 months 24.4% aged Conclusion: In adults there is trend towards higher rate among whom chance mutation. A better characterization urgently needed. Financial Support: FAPESP. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P2-14-06.

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