Tags

Type your tag names separated by a space and hit enter

Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer.
Eur J Cancer Prev. 2000 Jun; 9(3):139-50.EJ

Abstract

The hereditary breast (BC) and ovarian (OC) cancer syndrome (HBOC) includes genetic alterations of various susceptibility genes such as TP53, ATM, PTEN or MSH2, MLH1, PMS1, PMS2, MSH3 and MSH6, BRCA1 and BRCA2. Germline mutations of the cancer-susceptibility genes BRCA1 and BRCA2 seem to be the major aetiology of the HBOC. Genetic counselling and identification of high-risk families may be essential (1) to provide the best method for genetic testing by explaining the sensitivity and specificity of the methods, (2) to offer the opportunity to participate in specific early cancer detection programmes (breast (self) palpation, ultrasound, mammography and magnetic resonance tomography for breast cancer; vaginal exploration and ultrasound for ovarian cancer), (3) to inform them about prophylactic medication (oral contraceptive pill (OCP), chemoprevention (tamoxifen, raloxifen, aromatase inhibitors)) or surgery (bilateral prophylactic mastectomy or oophorectomy) and (4) to provide individualized psychological support. To fulfil these broad demands, an inter-disciplinary counselling approach (gynaecological oncology, human genetics, molecular biology, psychotherapy) in the setting of a cancer genetic clinic seems the most appropriate. There, participation in predictive genetic testing or the use of preventive or therapeutic options may be discussed extensively with the subjects. In particular, preventive options are emotionally disturbing for the subjects, and in cases of previous cancer. BC chemoprevention for high-risk women does not seem to be as effective as expected. However, OCP reduces the risk for OC. For prophylactic surgery, various points have to be considered, including: (1) individual risk assessment and gain in life expectancy, (2) value of screening and early detection methods or medical prevention, (3) disease characteristics and prognosis, and (4) anxiety and quality of life. Decisions regarding these options have to be individualized and psychological support must be offered during the period of decision and follow-up.

Authors+Show Affiliations

Department of Obstetrics and Gynecology and Institute of Human Genetics, Heinrich-Heine Universität, Düsseldorf, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

10954253

Citation

Kuschel, B, et al. "Prevention and Therapy for BRCA1/2 Mutation Carriers and Women at High Risk for Breast and Ovarian Cancer." European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP), vol. 9, no. 3, 2000, pp. 139-50.
Kuschel B, Lux MP, Goecke TO, et al. Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. Eur J Cancer Prev. 2000;9(3):139-50.
Kuschel, B., Lux, M. P., Goecke, T. O., & Beckmann, M. W. (2000). Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP), 9(3), 139-50.
Kuschel B, et al. Prevention and Therapy for BRCA1/2 Mutation Carriers and Women at High Risk for Breast and Ovarian Cancer. Eur J Cancer Prev. 2000;9(3):139-50. PubMed PMID: 10954253.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. AU - Kuschel,B, AU - Lux,M P, AU - Goecke,T O, AU - Beckmann,M W, PY - 2000/8/23/pubmed PY - 2001/2/28/medline PY - 2000/8/23/entrez SP - 139 EP - 50 JF - European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) JO - Eur J Cancer Prev VL - 9 IS - 3 N2 - The hereditary breast (BC) and ovarian (OC) cancer syndrome (HBOC) includes genetic alterations of various susceptibility genes such as TP53, ATM, PTEN or MSH2, MLH1, PMS1, PMS2, MSH3 and MSH6, BRCA1 and BRCA2. Germline mutations of the cancer-susceptibility genes BRCA1 and BRCA2 seem to be the major aetiology of the HBOC. Genetic counselling and identification of high-risk families may be essential (1) to provide the best method for genetic testing by explaining the sensitivity and specificity of the methods, (2) to offer the opportunity to participate in specific early cancer detection programmes (breast (self) palpation, ultrasound, mammography and magnetic resonance tomography for breast cancer; vaginal exploration and ultrasound for ovarian cancer), (3) to inform them about prophylactic medication (oral contraceptive pill (OCP), chemoprevention (tamoxifen, raloxifen, aromatase inhibitors)) or surgery (bilateral prophylactic mastectomy or oophorectomy) and (4) to provide individualized psychological support. To fulfil these broad demands, an inter-disciplinary counselling approach (gynaecological oncology, human genetics, molecular biology, psychotherapy) in the setting of a cancer genetic clinic seems the most appropriate. There, participation in predictive genetic testing or the use of preventive or therapeutic options may be discussed extensively with the subjects. In particular, preventive options are emotionally disturbing for the subjects, and in cases of previous cancer. BC chemoprevention for high-risk women does not seem to be as effective as expected. However, OCP reduces the risk for OC. For prophylactic surgery, various points have to be considered, including: (1) individual risk assessment and gain in life expectancy, (2) value of screening and early detection methods or medical prevention, (3) disease characteristics and prognosis, and (4) anxiety and quality of life. Decisions regarding these options have to be individualized and psychological support must be offered during the period of decision and follow-up. SN - 0959-8278 UR - https://www.unboundmedicine.com/medline/citation/10954253/Prevention_and_therapy_for_BRCA1/2_mutation_carriers_and_women_at_high_risk_for_breast_and_ovarian_cancer_ L2 - https://Insights.ovid.com/pubmed?pmid=10954253 DB - PRIME DP - Unbound Medicine ER -