NSGC Practice Guideline: Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer

Berliner, Janice L.; Fay, Aaron; Cummings, Shelly; Burnett, Brittany; Tillmanns, T.

doi:10.1007/s10897-012-9547-1

Cited by 123 publications

(75 citation statements)

References 51 publications

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“…Therefore, cancer risk assessment remains important in the event of a negative result because additional cancer screening and risk reduction options may still be indicated for the patient based on clinical history. 23,24,28 We appreciate the complexity of interpreting negative mutation-specific tests in family members of a carrier of a mutation in one of the moderately penetrant genes on these panels. Continued data collection through analysis of cosegregation and longitudinal study of mutation carriers through the work of the Evidence-Based Network for the Interpretation of Germline Mutant Alleles and other research groups will be necessary to guide risk assessment in this situation.…”

Section: Discussionmentioning

confidence: 99%

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

LaDuca

Stuenkel

Dolinsky

et al. 2014

Genetics in Medicine

293

243

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Purpose:The aim of this study was to determine the clinical and molecular characteristics of 2,079 patients who underwent hereditary cancer multigene panel testing.Methods:Panels included comprehensive analysis of 14–22 cancer susceptibility genes (BRCA1 and BRCA2 not included), depending on the panel ordered (BreastNext, OvaNext, ColoNext, or CancerNext). Next-generation sequencing and deletion/duplication analyses were performed for all genes except EPCAM (deletion/duplication analysis only). Clinical histories of ColoNext patients harboring mutations in genes with well-established diagnostic criteria were assessed to determine whether diagnostic/testing criteria were met.Results:Positive rates were defined as the proportion of patients with a pathogenic mutation/likely pathogenic variant(s) and were as follows: 7.4% for BreastNext, 7.2% for OvaNext, 9.2% for ColoNext, and 9.6% for CancerNext. Inconclusive results were found in 19.8% of BreastNext, 25.6% of OvaNext, 15.1% of ColoNext, and 23.5% of CancerNext tests. Based on information submitted by clinicians, 30% of ColoNext patients with mutations in genes with well-established diagnostic criteria did not meet corresponding criteria.Conclusion:Our data point to an important role for targeted multigene panels in diagnosing hereditary cancer predisposition, particularly for patients with clinical histories spanning several possible diagnoses and for patients with suspicious clinical histories not meeting diagnostic criteria for a specific hereditary cancer syndrome.

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Section: Discussionmentioning

confidence: 99%

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

LaDuca

Stuenkel

Dolinsky

et al. 2014

Genetics in Medicine

293

243

View full text Add to dashboard Cite

show abstract

“…This way of assessing family history is consistent with models of family risk assessment that focused on personal cancer history and the number of affected paternal and maternal first, second, and third degree of relatives. [13][14][15] Using the format suggested by Lipkus, 16 female respondents were asked to estimate their own lifetime breast or ovarian cancer risk, and males were asked to estimate a female relative's lifetime risk of developing these types of cancers, compared with others of their same race and age, indicating if they thought their risk (or a family member's risk) was higher, the same, or lower. We used a modification of Schwartz et al 's 17 three-item measure of numeracy previously used in a study of screening for mammography.…”

Section: Methodsmentioning

confidence: 99%

The Angelina effect: immediate reach, grasp, and impact of going public

Borzekowski

Guan

Smith

et al. 2014

Genetics in Medicine

135

111

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Results: While three of four Americans were aware of Angelina Jolie's double mastectomy, fewer than 10% of respondents had the information necessary to accurately interpret Ms Jolie's risk of developing cancer relative to a woman unaffected by the BRCA gene mutation. Awareness of the Angelina Jolie story was not associated with improved understanding. Conclusion:While celebrities can bring heightened awareness to health issues, there is a need for these messages to be accompanied by more purposeful communication efforts to assist the public in understanding and using the complex diagnostic and treatment information that these stories convey.Genet Med advance online publication 19 December 2013

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“…While shifting practice from single gene to panel-based germline testing, genetic counsellors are also adjusting to advances in precision medicine. In the past, the primary role of genetic testing was to inform patients and their families of their future cancer risks and available options for high-risk screening and risk reduction, not to guide the treatment of a current ovarian cancer 34. The new utility of genetic testing to inform cancer treatment alters the context of pre-test counselling, moving from a shared decision-making process to a more directive discussion.…”

Section: Challenges and Opportunities In Brca1/2 Assessment In Canadamentioning

confidence: 99%

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

et al. 2018

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The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.

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NSGC Practice Guideline: Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer

Cited by 123 publications

References 51 publications

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

The Angelina effect: immediate reach, grasp, and impact of going public

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

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