scholarly journals BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

2012 ◽  
Vol 14 (7) ◽  
pp. 688-694 ◽  
Author(s):  
Shiri Shkedi-Rafid ◽  
Efrat Gabai-Kapara ◽  
Julia Grinshpun-Cohen ◽  
Ephrat Levy-Lahad
Keyword(s):  
Genetic Testing ◽  
Population Screening ◽  
Low Prevalence ◽  
Prevalence Of Cancer ◽  
Brca Genetic Testing

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

2006 ◽  
Vol 42 (7) ◽  
pp. 871-881 ◽  
Author(s):  
Julien Mancini ◽  
Catherine Noguès ◽  
Claude Adenis ◽  
Pascaline Berthet ◽  
Valerie Bonadona ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Information Booklet ◽  
Brca Genetic Testing

scholarly journals Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations

2016 ◽  
Vol 18 (12) ◽  
pp. 1171-1180 ◽  
Author(s):  
Elvira D’Andrea ◽  
Carolina Marzuillo ◽  
Corrado De Vito ◽  
Marco Di Marco ◽  
Erica Pitini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Health Care ◽  
Genetic Testing ◽  
Economic Evaluations ◽  
Brca Genetic Testing

scholarly journals BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1252 ◽  
Author(s):  
Angela Toss ◽  
Eleonora Molinaro ◽  
Marta Venturelli ◽  
Federica Domati ◽  
Luigi Marcheselli ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Triple Negative Breast Cancer ◽  
Early Onset ◽  
Detection Rate ◽  
Triple Negative ◽  
Brca2 Mutation ◽  
Brca Testing ◽  
Brca Genetic Testing

NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

The Role of Financial Factors in Acceptance of Clinical BRCA Genetic Testing

2007 ◽  
Vol 11 (1) ◽  
pp. 101-110 ◽  
Author(s):  
Shannon Kieran ◽  
Lois J. Loescher ◽  
Kyung Hee Lim
Keyword(s):  
Genetic Testing ◽  
Financial Factors ◽  
Brca Genetic Testing

Decision support for family history intake to determine eligibility for BRCA testing among multiethnic women.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1586-1586 ◽  
Author(s):  
Julia E. McGuinness ◽  
Meghna S. Trivedi ◽  
Alejandro Vanegas ◽  
Hilary Colbeth ◽  
Rossy Sandoval ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Decision Support ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Self Report ◽  
Brca Testing ◽  
The Family ◽  
Brca Genetic Testing

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

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