P2-13-08: A Retrospective Study on Surveillance Behaviour and Prophylaxis after Genetic Testing for Hereditary Breast and Ovarian Cancer among High-Risk Chinese Females.

2011 ◽  
Author(s):  
A Kwong ◽  
ATW Chu
Keyword(s):  
Ovarian Cancer ◽  
Retrospective Study ◽  
Genetic Testing ◽  
High Risk ◽  
Breast And Ovarian Cancer

scholarly journals Clinical Considerations ofBRCA1- andBRCA2-Mutation Carriers: A Review

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
O. Bougie ◽  
J. I. Weberpals
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Significant Risk ◽  
Surgical Prophylaxis ◽  
Breast And Ovarian Cancer ◽  
Screening Guidelines ◽  
Mutation Carriers ◽  
Clinical Considerations

Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) andBRCA2genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high risk of developing breast and ovarian cancer, including criteria for genetic testing, screening guidelines, surgical prophylaxis, and chemoprevention.

scholarly journals Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer

2019 ◽  
pp. 1-14 ◽  
Author(s):  
Christina Adaniel ◽  
Francisca Salinas ◽  
Juan Manuel Donaire ◽  
Maria Eugenia Bravo ◽  
Octavio Peralta ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Predisposition ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants ◽  
Cancer Program ◽  
Genetic Test Results

PURPOSE Little is known about the genetic predisposition to breast and ovarian cancer among the Chilean population, in particular genetic predisposition beyond BRCA1 and BRCA2 mutations. In the current study, we aim to describe the germline variants detected in individuals who were referred to a hereditary cancer program in Santiago, Chile. METHODS Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non- BRCA1/2 genes. CONCLUSION Testing for non- BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.

Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1575-1575
Author(s):  
Charles Hendrix Shelton ◽  
Leigh Boehmer ◽  
Christine B. Weldon ◽  
William C. Guenther ◽  
Julia Rachel Trosman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Screening ◽  
Systematic Approach ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
Risk Patients

1575 Background: Genetic testing for at risk non-cancer patients continues to increase (Guo F, et al Cancer 2020). We identified a high risk of familial breast and ovarian cancer in rural eastern North Carolina, and created a systematic approach for genetic screening, counseling and testing. Methods: A family history questionnaire was designed to assess for the risk for hereditary breast and ovarian cancer (HBOC) using NCCN guidelines, and used at key intake points within the unaffected population to determine eligibility for genetic testing. First it was offered at the time of all mammograms. Second, we offered it in the primary gynecology care setting to capture younger patients not participating in screening mammography. Patients meeting HBOC criteria were sent a letter and two phone calls to schedule genetic counseling. Analysis via descriptive statistics. Results: 3000 rural women screened using our systematic approach to genetic risk assessment. 22.4% (673/3000) of female patients met NCCN criteria for HBOC panel testing. All offered consultation and counseling. With a backlog to see patients due to higher than expected accrual, 217 patients have completed pre-test genetic counseling, 201 completed local 19-gene panel test, and 201 had post-test counseling. Germline mutations (=>1) that predict for genetic susceptibility to cancer(s) occur in 7.8% of our screened and tested population. Currently 1 in 400 patients screened in our unaffected population carry a BRCA mutation, and 1 in 200 carry some pathogenic mutation that increases risk for HBOC. Conclusions: This rural model of screening and prevention of at risk patients for HBOC is successful at detecting pathogenic mutations in unaffected patients before they are diagnosed with cancer. Interestingly, the rate of positivity in the unaffected population (meeting criteria) is as high as the known breast cancer population rate of germline mutations (5-10%), validating the use of testing guidelines with our model. Discovering this susceptibility before a cancer diagnosis resulted in appropriate high risk management with prevention and risk reduction strategies. We plan to expand this model to the male screening population in 2021, and streamline genetic assessment and testing for the larger population at risk by engaging more rural primary care clinics over time to increase testing compliance. We also plan to consider broader gene panels as newer mutations become linked to HBOC. Clinical trial information: UMCIRB 19-001052.

scholarly journals Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer

2019 ◽  
Vol 9 (1) ◽  
pp. 15 ◽  
Author(s):  
Ava Willoughby ◽  
Paul Andreassen ◽  
Amanda Toland
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Cancer Susceptibility ◽  
Cancer Surveillance ◽  
Risk Scores ◽  
Breast And Ovarian Cancer ◽  
Cancer Susceptibility Genes ◽  
Uncertain Significance

Breast cancer screening modalities and guidelines continue to evolve and are increasingly based on risk factors, including genetic risk and a personal or family history of cancer. Here, we review genetic testing of high-penetrance hereditary breast and ovarian cancer genes, including BRCA1 and BRCA2, for the purpose of identifying high-risk individuals who would benefit from earlier screening and more sensitive methods such as magnetic resonance imaging. We also consider risk-based screening in the general population, including whether every woman should be genetically tested for high-risk genes and the potential use of polygenic risk scores. In addition to enabling early detection, the results of genetic screens of breast cancer susceptibility genes can be utilized to guide decision-making about when to elect prophylactic surgeries that reduce cancer risk and the choice of therapeutic options. Variants of uncertain significance, especially missense variants, are being identified during panel testing for hereditary breast and ovarian cancer. A finding of a variant of uncertain significance does not provide a basis for increased cancer surveillance or prophylactic procedures. Given that variant classification is often challenging, we also consider the role of multifactorial statistical analyses by large consortia and functional tests for this purpose.

scholarly journals Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

2020 ◽  
Vol 102 ◽  
Author(s):  
Tu Nguyen-Dumont ◽  
Pawel Karpinski ◽  
Maria M. Sasiadek ◽  
Hayane Akopyan ◽  
Jason A. Steen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Founder Mutation ◽  
Targeted Sequencing ◽  
Founder Mutations ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Prior Testing ◽  
Variant Frequency

Abstract Purpose To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions is currently mainly limited to founder mutations. Methods Unrelated women affected with breast and/or ovarian cancer from Poland (n = 337) and Ukraine (n = 123) were screened by targeted sequencing. Excluded from targeted sequencing were 34 Polish women who had previously been identified as carrying a founder mutation in BRCA1. No prior testing had been conducted among the Ukrainian women. Thus, this study screened BRCA1 and BRCA2 in the germline DNA of 426 women in total. Results We identified 31 and 18 women as carriers of pathogenic/likely pathogenic (P/LP) genetic variants in BRCA1 and BRCA2, respectively. We observed five BRCA1 and eight BRCA2 P/LP variants (13/337, 3.9%) in the Polish women. Combined with the 34/337 (10.1%) founder variants identified prior to this study, the overall P/LP variant frequency in the Polish women was thus 14% (47/337). Among the Ukrainian women, 16/123 (13%) women were identified as carrying a founder mutation and 20/123 (16.3%) were found to carry non-founder P/LP variants (10 in BRCA1 and 10 in BRCA2). Conclusions These results indicate that genetic testing in women at high risk of breast and ovarian cancer in Poland and Ukraine should not be limited to founder mutations. Extended testing will enhance risk stratification and management for these women and their families.

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