Evaluation of Cancer-Based Criteria for Use in Mainstream<i>BRCA1</i>and<i>BRCA2</i>Genetic Testing in Patients With Breast Cancer

Kemp, Zoe; Turnbull, Alice; Yost, Shawn; Seal, Sheila; Mahamdallie, Shazia; Poyastro-Pearson, Emma; Warren-Perry, Margaret; Eccleston, Anthony; Tan, Min; Teo, Soo‐Hwang; Turner, Nicholas C.; Strydom, Ann; George, Angela; Rahman, Nazneen

doi:10.1001/jamanetworkopen.2019.4428

Cited by 89 publications

(122 citation statements)

References 49 publications

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“…In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer . It is predicted that if the United Kingdom adopted the MCG breast cancer mainstream testing guidelines, this would result in 2500 BRCA mutations identified per year and find all BRCA mutations from testing only a third of breast cancer patients most likely to carry a mutation . A total of 1020 cancers would be identified, and 204 deaths prevented per year.…”

Section: How Does Genomic Testing Inform Treatment Pathways For Commomentioning

confidence: 99%

Section: Future Directions and Implications For Psycho‐oncologymentioning

confidence: 99%

“…16 It is predicted that if the United Kingdom adopted the MCG breast cancer mainstream testing guidelines, this would result in 2500 BRCA mutations identified per year and find all BRCA mutations from testing only a third of breast cancer patients most likely to carry a mutation. 16 A total of 1020 cancers would be identified, and 204 deaths prevented per year. This would also lead to 95% reduction in pre-test genetic consultations, whereas post-test counselling requirements would remain unchanged in traditional versus mainstream models; therefore, the overall economic benefits would be significant.…”

Section: Breast Cancermentioning

confidence: 99%

“…A clear shift in oncology has achieved mainstream germline genetic testing at point of diagnosis for patients with breast and ovarian cancer; the coming years will see this integration into all tumour groups and a likely convergence of germline and tumour genetic testing. 16 Genomics clinicians will need to serve a larger population with more complex genomic information. The impact for genetic counselling will be more multidisciplinary working with non-genetics colleagues and a shift in focus to the post-test setting in patients with pertinent findings or complex family histories.…”

Section: Future Directions and Implications For Psycho-oncologymentioning

confidence: 99%

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The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

2020

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Section: How Does Genomic Testing Inform Treatment Pathways For Commomentioning

confidence: 99%

Section: Future Directions and Implications For Psycho‐oncologymentioning

confidence: 99%

Section: Breast Cancermentioning

confidence: 99%

Section: Future Directions and Implications For Psycho-oncologymentioning

confidence: 99%

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The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

2020

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“…In September 2013, the Royal Marsden Cancer Genetics Unit initiated a Mainstreaming Cancer Genetics programme. By simplifying eligibility criteria and by training non-genetic clinicians to offer germline BRCA1 and BRCA2 testing within the context of breast surgical and oncology clinics, access to germline testing for new breast cancer patients was expanded 4. However, we also wanted patients in our Open Access Follow-Up (OAFU) programme to be able to benefit.…”

Section: Introductionmentioning

confidence: 99%

Germline BRCA1 and BRCA2 testing for breast cancer survivors

et al. 2019

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Background For patients with early breast cancer, knowledge of germline BRCA1/2 status increasingly influences management as well as informing future cancer risk for patients and their families. As access to germline testing expands, it is important that this benefit is extended to survivors as well as to the newly diagnosed.Methods In collaboration with our breast unit colleagues and by embedding a Senior Genetic Counsellor in the virtual multidisciplinary meeting, we identified patients suitable for genetics review 5 years after their breast cancer diagnosis.Results Between May 2015 and December 2018, 2044 patients were discussed, of whom 769 patients were identified for notes review by Genetics. Of these, 275 had already undergone testing and 47 had confirmed germline pathogenic variants in BRCA1/2. A further 463 were recommended for referral. One hundred and eighty patients were subsequently offered testing with 161 accepting (161/180, 89%). Nine patients were found to harbour pathogenic variants in either BRCA1 or BRCA2 (9/161, 6%). Of the initial 2044 patients reviewed, 2.7% (56/2044) are now known to carry germline pathogenic variants.Conclusion The survivorship setting provides an opportunity for genetic review underpinned by collaborative working between cancer specialists and the genetics team.

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Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma

AlDubayan

Conway

Camp

et al. 2020

JAMA

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IMPORTANCE Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection.OBJECTIVE To evaluate if deep learning approaches identify more germline pathogenic variants in patients with cancer. DESIGN, SETTING, AND PARTICIPANTSA cross-sectional study of a standard germline detection method and a deep learning method in 2 convenience cohorts with prostate cancer and melanoma enrolled in the US and Europe between 2010 and 2017. The final date of clinical data collection was December 2017.EXPOSURES Germline variant detection using standard or deep learning methods. MAIN OUTCOMES AND MEASURESThe primary outcomes included pathogenic variant detection performance in 118 cancer-predisposition genes estimated as sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). The secondary outcomes were pathogenic variant detection performance in 59 genes deemed actionable by the American College of Medical Genetics and Genomics (ACMG) and 5197 clinically relevant mendelian genes. True sensitivity and true specificity could not be calculated due to lack of a criterion reference standard, but were estimated as the proportion of true-positive variants and true-negative variants, respectively, identified by each method in a reference variant set that consisted of all variants judged to be valid from either approach. RESULTSThe prostate cancer cohort included 1072 men (mean [SD] age at diagnosis, 63.7 [7.9] years; 857 [79.9%] with European ancestry) and the melanoma cohort included 1295 patients (mean [SD] age at diagnosis, 59.8 [15.6] years; 488 [37.7%] women; 1060 [81.9%] with European ancestry). The deep learning method identified more patients with pathogenic variants in cancer-predisposition genes than the standard method

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Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

Cited by 89 publications

References 49 publications

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

Germline BRCA1 and BRCA2 testing for breast cancer survivors

Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma

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