Abstract IA3-3: Genetic testing for breast and ovarian cancer: From risk assessment to therapeutic targeting

2010 ◽  
Author(s):  
Susan M. Domchek
Keyword(s):  
Ovarian Cancer ◽  
Risk Assessment ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer ◽  
Therapeutic Targeting

scholarly journals Genetic Testing for Cancer Risk Assessment in Patients With Breast and Ovarian Cancer in Ibadan, Nigeria

2019 ◽  
Vol 5 (Supplement_1) ◽  
pp. 4-4
Author(s):  
Makayla L. Kochheiser ◽  
Toyin I.G. Aniagwu ◽  
Prisca O. Adejumo ◽  
Olufunmilayo I. Olopade
Keyword(s):  
Ovarian Cancer ◽  
Risk Assessment ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Cancer Diagnosis ◽  
Cancer Risk Assessment ◽  
Breast And Ovarian Cancer ◽  
Cancer History ◽  
Family Cancer History ◽  
Ibadan Nigeria

PURPOSE Breast cancer is the leading cause of cancer-related death among women, and ovarian cancer has the highest case fatality rate of all gynecologic cancers. In Nigeria, approximately 80% of breast and ovarian cancer cases are diagnosed at advanced stages. Genetic testing has the potential to reduce the morbidity and mortality associated with late cancer diagnosis. The introduction of genetic testing for cancer risk assessment at University College Hospital (UCH), Ibadan will serve as a model for the rest of Nigeria. The objective of this study was to introduce genetic testing for cancer risk assessment in patients with breast and ovarian cancer in Ibadan, Nigeria and to determine the demographics of women undergoing testing and their perceptions concerning the benefits of and barriers to genetic testing. METHODS Patients with breast or ovarian cancer were recruited at UCH. All patients received genetic counseling and had the opportunity to consent to the Color Genomics Hereditary Cancer Panel Test, free of charge, after due ethical approval. Patients were tested for 30 gene mutations with known associations to eight hereditary cancers. After testing, patients completed a semistandardized questionnaire assessing their sociodemographic information, family cancer history, and perceived benefits and barriers to genetic testing. RESULTS Seven patients with ovarian cancer and 40 patients with breast cancer received genetic counseling, and all chose to undergo subsequent genetic testing. The average age at testing was 49 years, and the average age at cancer diagnosis was 47 years. Eight women reported a known family cancer history, and there were more perceived benefits than barriers to genetic testing. The genetic test results revealed 27 negative mutations, 16 variants of unknown significance, and four pathogenic mutations. CONCLUSION Patients with breast and ovarian cancer at UCH associate genetic testing with benefits for their care. These results suggest potential for growth and sustainability of genetic testing for cancer risk management in Nigeria.

Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations

2019 ◽  
Vol 25 (4) ◽  
pp. 575-577
Author(s):  
Marie E. Wood ◽  
Judy E. Garber ◽  
Claudine Isaacs ◽  
Shahla Masood ◽  
Isabelle Bedrosian ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer

scholarly journals Oncologists' opinions on genetic testing for breast and ovarian cancer

2001 ◽  
Vol 3 (2) ◽  
pp. 120-125 ◽  
Author(s):  
Julie O Culver ◽  
Judy L Hull ◽  
Deborah F B Dunne ◽  
Wylie Burke
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer

scholarly journals Psychosocial Aspects of Familial Breast and Ovarian Cancer: Psychological Guidelines for Genetic Testing

1999 ◽  
Vol 15 (1-3) ◽  
pp. 152-153 ◽  
Author(s):  
M. Decruyenaere ◽  
G. Evers-Kiebooms ◽  
E. Claes ◽  
L. Denayer ◽  
M. Welkenhuysen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Psychosocial Aspects ◽  
Breast And Ovarian Cancer

scholarly journals Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 338 ◽  
Author(s):  
Matthew Richardson ◽  
Hae Jung Min ◽  
Quan Hong ◽  
Katie Compton ◽  
Sze Wing Mung ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Health Care ◽  
Genetic Testing ◽  
Population Based ◽  
Gene Panel ◽  
Wait Times ◽  
Genetic Counsellor ◽  
Care Providers ◽  
Cancer Genetic ◽  
Breast And Ovarian Cancer

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

scholarly journals SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)

2019 ◽  
Vol 22 (2) ◽  
pp. 193-200 ◽  
Author(s):  
S. González-Santiago ◽  
◽  
T. Ramón y Cajal ◽  
E. Aguirre ◽  
J. E. Alés-Martínez ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Diagnosis ◽  
Treatment Strategies ◽  
Parp Inhibitors ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations ◽  
Clinical Criteria ◽  
Therapeutic Implications ◽  
New Genes

AbstractMutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. Multigene cancer panels provide new challenges related to increased frequency of variants of uncertain significance, new gene-specific cancer risk assessments, and clinical recommendations for carriers of mutations of new genes. Although clinical criteria for genetic testing continue to be largely based on personal and family history with around a 10% detection rate, broader criteria are being applied with a lower threshold for detecting mutations when there are therapeutic implications for patients with breast or ovarian cancer. In this regard, new models of genetic counselling and testing are being implemented following the registration of PARP inhibitors for individuals who display BRCA mutations. Massive sequencing techniques in tumor tissue is also driving a paradigm shift in genetic testing and potential identification of germline mutations. In this paper, we review the current clinical criteria for genetic testing, as well as surveillance recommendations in healthy carriers, risk reduction surgical options, and new treatment strategies in breast cancer gene-mutated carriers.

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