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 language | English |
|---|---|
| Pages (from-to) | 740-753 |
| Number of pages | 14 |
| Journal | Journal of Clinical Oncology |
| Volume | 21 |
| Issue number | 4 |
| DOIs | |
| State | Published - Feb 15 2003 |
| Externally published | Yes |
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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 journal › Review article
}
TY - JOUR
T1 - Hereditary breast-ovarian cancer at the bedside
T2 - Role of the medical oncologist
AU - Lynch, Henry T.
AU - Snyder, Carrie L.
AU - Lynch, Jane F.
AU - Riley, Bronson D.
AU - Rubinstein, Wendy S.
PY - 2003/2/15
Y1 - 2003/2/15
N2 - 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.
AB - 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.
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U2 - 10.1200/JCO.2003.05.096
DO - 10.1200/JCO.2003.05.096
M3 - Review article
VL - 21
SP - 740
EP - 753
JO - Journal of Clinical Oncology
JF - Journal of Clinical Oncology
SN - 0732-183X
IS - 4
ER -