Hereditary Breast Cancer: Mutations within BRCA1 and BRCA2 with Phenotypic Responses

Abstract

Eighty-five hereditary breast ovarian cancer (HBOC) families are identified as having a BRCA1 or BRCA2 germline mutation. Five hundred and thirty eligible individuals were identified for the study. Three hundred and eighty-eight of these individuals provided permission to obtain slides and blocks on their breast cancer. We were not able to obtain 103 of these cases due to the slides and blocks being destroyed or the hospital did not respond to our requests. Slides and blocks have been collected on two hundred and eighty-five cases. Sixteen of these cases were ascertained from Dr. Narod's center in Toronto, Canada. Two-hundred and seventeen are carriers of a BRCA1 mutation and 68 are BRCA2 carriers. Pathologic analysis has been completed on 187 cases, leaving 98 cases pending analysis. H&E slides and DNA flow cytometry were completed for 280 cases. Ninety cases have been evaluated for estrogen receptor (ER), progesterone receptor (PR), and c-erbB-2. Histopathological analysis could not be completed this year by Dr. Marcus and Dr. Page, due to staffing conflicts. In summary of last years results: when compared with non-hereditary breast cancers (HBC), BRCA2 HBCs appear to be more similar to usual breast carcinomas. BRCA1 HBC appears to be the deviant phenotype.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2001
Accession Number
ADA394772

Entities

People

  • Henry T. Lynch

Organizations

  • Creighton University

Tags

DTIC Thesaurus Topics

  • Biomedical Research
  • Breast Cancer
  • Cancer
  • Carcinoma
  • Estrogens
  • Health Services
  • Hormones
  • Hospitals
  • Medical Personnel
  • Mutations
  • Neoplasms
  • Ovarian Cancer
  • Phenotypes
  • Risk Factors
  • Statistical Analysis
  • Universities

Fields of Study

  • Medicine

Readers

  • Molecular and genetic basis of cancer.
  • Women's Health and Cancer Risk Research: African American Women and Pregnancy Outcomes.