Guidelines for Evaluation of Patients at Risk for Inherited Breast and Ovarian Cancer: Recommendations of the Department of Defense Familial Breast/Ovarian Cancer Research Project

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

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Use of a Standardized Tool to Identify Women at Risk for Hereditary Breast and Ovarian Cancer

Nursing for Women s Health ◽

10.1016/j.nwh.2021.03.008 ◽

2021 ◽

Author(s):

Melissa Hessock ◽

Tracy Brewer ◽

Sadie Hutson ◽

Jeff Anderson

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Breast And Ovarian Cancer

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Erratum to ‘Use of a Standardized Tool to Identify Women at Risk for Hereditary Breast and Ovarian Cancer’ [Nursing for Women's Health 25 (2021) 187-197]

Nursing for Women s Health ◽

10.1016/j.nwh.2021.06.003 ◽

2021 ◽

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Women’S Health ◽

Women's Health ◽

Breast And Ovarian Cancer ◽

Cancer Nursing

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Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

10.21203/rs.3.rs-74214/v1 ◽

2020 ◽

Author(s):

Urška Kotnik ◽

Borut Peterlin ◽

Luca Lovrecic

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Family History ◽

High Risk ◽

Breast And Ovarian Cancer ◽

Nccn Guidelines ◽

Family History Of Cancer ◽

Slovenian Population ◽

History Of ◽

History Of Cancer

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.

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Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

Cancer Control ◽

10.1177/107327480200900602 ◽

2002 ◽

Vol 9 (6) ◽

pp. 457-465 ◽

Cited By ~ 31

Author(s):

Mark E. Robson

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Clinical Management ◽

Management Strategies ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Hereditary Risk ◽

Increased Risk ◽

Post Test ◽

Clinical Considerations

Background Hereditary predisposition to breast and ovarian cancer, most commonly due to germline mutations in BRCA1 and BRCA2, has been recognized for many years. The optimal clinical management of individuals with such a predisposition is not yet completely defined. Methods The current literature regarding the clinical management of individuals at risk for hereditary breast and ovarian cancer was reviewed. Results Women with germline BRCA1 or BRCA2 mutations are at substantially increased risk for breast and ovarian cancer, although the risks may not be as high as originally reported. Current surveillance options are restricted in their effectiveness by both host and tumor factors as well as limitations of the techniques. Surgical prevention options, while effective, may be complicated by physical or psychological morbidity. Nonsurgical prevention options are under development. Conclusions The ability to define women as being at hereditary risk for breast and ovarian cancer facilitates the use of specialized surveillance and prevention strategies. Genetic testing, which plays a role in defining risk, requires careful pre- and post-test counseling to discuss the limitations of testing itself and available management strategies.

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