Hereditary breast-ovarian cancer at the bedside

Role of the medical oncologist

Henry T. Lynch, Carrie L. Snyder, Jane F. Lynch, Bronson D. Riley, Wendy S. Rubinstein

Research output: Contribution to journalReview article

40 Citations (Scopus)

Abstract

Purpose: To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. Design: We have studied 98 extended hereditary breast cancer (HBC)/hereditary breast-ovarian cancer (HBOC) families with BRCA1/2 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University's hereditary cancer family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report. Results: Many obstacles were identified in diagnosis, counseling, and managing patients at high risk for HBC/HBOC. These obstacles were early noncancer death of key relatives, perception of insurance or employment discrimination, fear, anxiety, apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the cancer family history were identified. Conclusion: When clinical gene testing emerged for BRCA1 and BRCA2, little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk patients and families to genetic counseling can greatly enhance the care of the population at the highest risk for cancer. However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of cancer of the breast, ovary, or several integrally associated cancers is obtained.

Original languageEnglish
Pages (from-to)740-753
Number of pages14
JournalJournal of Clinical Oncology
Volume21
Issue number4
DOIs
StatePublished - Feb 15 2003
Externally publishedYes

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Ovarian Neoplasms
Breast Neoplasms
Genetic Counseling
Counseling
Hereditary Breast and Ovarian Cancer Syndrome
Neoplasms
Christianity
Oncologists
Penetrance
Germ-Line Mutation
Malpractice
DNA
Pedigree
Insurance
Genes
Fear
Registries
Referral and Consultation
Anxiety
Delivery of Health Care

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Hereditary breast-ovarian cancer at the bedside : Role of the medical oncologist. / Lynch, Henry T.; Snyder, Carrie L.; Lynch, Jane F.; Riley, Bronson D.; Rubinstein, Wendy S.

In: Journal of Clinical Oncology, Vol. 21, No. 4, 15.02.2003, p. 740-753.

Research output: Contribution to journalReview article

Lynch, Henry T. ; Snyder, Carrie L. ; Lynch, Jane F. ; Riley, Bronson D. ; Rubinstein, Wendy S. / Hereditary breast-ovarian cancer at the bedside : Role of the medical oncologist. In: Journal of Clinical Oncology. 2003 ; Vol. 21, No. 4. pp. 740-753.
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