Abstract
BACKGROUND. The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. The process of BRCA1 testing and genetic counseling, and participants' reactions to test results, are described. METHODS. Education about the natural history of HBOC syndrome and the pros and cons of genetic testing was provided to 14 HBOC families comprised of 2549 bloodline relatives. Of these, 388 underwent DNA testing. After informed consent was given by participants, formal linkage analysis and gene mutation studies were performed on the families. Qualitative data on intentions and emotional reactions were collected by physicians/counselors during the genetic counseling sessions. RESULTS. Of those tested, 181 received their results after further genetic counseling. Seventy-eight of them were positive and 100 were negative for BRCA1 gene mutation. Three had ambiguous findings. The most common reasons given for seeking DNA testing were concern about risk to children and concern about surveillance and prevention. Prophylactic mastectomy was considered by 35% of women who tested positive, whereas prophylactic oophorectomy was considered an important option by 76%. Twenty-five percent of both BRCA1 positive and negative individuals were concerned about discrimination by insurance companies. Eighty percent of those who tested negative reported emotional relief, whereas over one-third of those who tested positive reported sadness, anger, or guilt. CONCLUSIONS. DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. The authors' results demonstrate the many complex clinical and nonclinical issues that are important in this process.
| Original language | English |
|---|---|
| Pages (from-to) | 2219-2228 |
| Number of pages | 10 |
| Journal | Cancer |
| Volume | 79 |
| Issue number | 11 |
| DOIs | |
| State | Published - Jun 1 1997 |
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All Science Journal Classification (ASJC) codes
- Cancer Research
- Oncology
Cite this
A descriptive study of BRCA1 testing and reactions to disclosure of test results. / Lynch, Henry T.; Lemon, Stephen J.; Durham, Carolyn; Tinley, Susan T.; Connolly, Chris; Lynch, Jane F.; Surdam, Jonathan; Orinion, Ernest; Slominski-Caster, Sue; Watson, Patrice; Lerman, Caryn; Tonin, Patricia; Lenoir, Gilbert; Serova, Olga; Narod, Steven.
In: Cancer, Vol. 79, No. 11, 01.06.1997, p. 2219-2228.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A descriptive study of BRCA1 testing and reactions to disclosure of test results
AU - Lynch, Henry T.
AU - Lemon, Stephen J.
AU - Durham, Carolyn
AU - Tinley, Susan T.
AU - Connolly, Chris
AU - Lynch, Jane F.
AU - Surdam, Jonathan
AU - Orinion, Ernest
AU - Slominski-Caster, Sue
AU - Watson, Patrice
AU - Lerman, Caryn
AU - Tonin, Patricia
AU - Lenoir, Gilbert
AU - Serova, Olga
AU - Narod, Steven
PY - 1997/6/1
Y1 - 1997/6/1
N2 - BACKGROUND. The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. The process of BRCA1 testing and genetic counseling, and participants' reactions to test results, are described. METHODS. Education about the natural history of HBOC syndrome and the pros and cons of genetic testing was provided to 14 HBOC families comprised of 2549 bloodline relatives. Of these, 388 underwent DNA testing. After informed consent was given by participants, formal linkage analysis and gene mutation studies were performed on the families. Qualitative data on intentions and emotional reactions were collected by physicians/counselors during the genetic counseling sessions. RESULTS. Of those tested, 181 received their results after further genetic counseling. Seventy-eight of them were positive and 100 were negative for BRCA1 gene mutation. Three had ambiguous findings. The most common reasons given for seeking DNA testing were concern about risk to children and concern about surveillance and prevention. Prophylactic mastectomy was considered by 35% of women who tested positive, whereas prophylactic oophorectomy was considered an important option by 76%. Twenty-five percent of both BRCA1 positive and negative individuals were concerned about discrimination by insurance companies. Eighty percent of those who tested negative reported emotional relief, whereas over one-third of those who tested positive reported sadness, anger, or guilt. CONCLUSIONS. DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. The authors' results demonstrate the many complex clinical and nonclinical issues that are important in this process.
AB - BACKGROUND. The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. The process of BRCA1 testing and genetic counseling, and participants' reactions to test results, are described. METHODS. Education about the natural history of HBOC syndrome and the pros and cons of genetic testing was provided to 14 HBOC families comprised of 2549 bloodline relatives. Of these, 388 underwent DNA testing. After informed consent was given by participants, formal linkage analysis and gene mutation studies were performed on the families. Qualitative data on intentions and emotional reactions were collected by physicians/counselors during the genetic counseling sessions. RESULTS. Of those tested, 181 received their results after further genetic counseling. Seventy-eight of them were positive and 100 were negative for BRCA1 gene mutation. Three had ambiguous findings. The most common reasons given for seeking DNA testing were concern about risk to children and concern about surveillance and prevention. Prophylactic mastectomy was considered by 35% of women who tested positive, whereas prophylactic oophorectomy was considered an important option by 76%. Twenty-five percent of both BRCA1 positive and negative individuals were concerned about discrimination by insurance companies. Eighty percent of those who tested negative reported emotional relief, whereas over one-third of those who tested positive reported sadness, anger, or guilt. CONCLUSIONS. DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. The authors' results demonstrate the many complex clinical and nonclinical issues that are important in this process.
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UR - http://www.scopus.com/inward/citedby.url?scp=0008195461&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1097-0142(19970601)79:11<2219::AID-CNCR21>3.0.CO;2-Y
DO - 10.1002/(SICI)1097-0142(19970601)79:11<2219::AID-CNCR21>3.0.CO;2-Y
M3 - Article
C2 - 9179070
AN - SCOPUS:0008195461
VL - 79
SP - 2219
EP - 2228
JO - Cancer
JF - Cancer
SN - 0008-543X
IS - 11
ER -