Date of Award

3-13-2000

Document Type

Open Access Thesis

Degree Name

Medical Doctor (MD)

First Advisor

Dr. Bruce Haffty

Abstract

This study explores the relationship among young age at diagnosis, family history, BRCA1/2 status, and ipsilateral breast tumor relapse (IBTR) in conservatively treated breast cancer patients. First, age was examined as a prognostic factor for IBTR using clinical information from 984 patients in a computerized database. Second, 52 case patients who had experienced an IBTR were matched to 52 control patients from the database to determine if IBTR was associated with family history. For these 104 patients, detailed family history interviews were conducted; all data were recorded in a pedigree. A genetic counselor blind to the clinical histories then scored each pedigree as highly suggestive, moderately suggestive, or not suggestive of a hereditary breast cancer. Third, to assess the role of BRCA1/2 status in IBTR, 52 case patients and 15 control patients underwent genetic testing. For the database, the overall actuarial 10-year survival was 73% with a median follow-up of 12.3 years; 112 patients had experienced a local relapse resulting in a 10-year actuarial IBTR rate of 15%. Patients age 40 and younger had a significantly higher IBTR rate than patients over age 40 (p<0.001). In the family history study, no differences were found between the cases and the controls. The BRCCA1/2 mutation rate was 15% in the IBTR group (n=52). However, 40% of case patients age 40 and younger had mutations, compared to 6.6% of matched controls. In summary, young age at diagnosis is a significant risk factor for IBTR but family history is not. Young patients with IBTR have an elevated frequency of BRCA1/2 mutations, ; the IBTRs in these patients may represent new primaries, which has implications for mutation carriers considering lumpectomy and radiation therapy.

Comments

This is an Open Access Thesis.

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