Evaluating the NCCN Clinical Criteria for Recommending<i>BRCA1</i>and<i>BRCA2</i>Genetic Testing in Patients With Breast Cancer

Cropper, C. F. J.; Woodson, Ashley H.; Arun, Banu K.; Barcenas, Carlos H.; Litton, Jennifer K.; Noblin, Sarah; Liu, Diane; Park, Minjeong; Daniels, Molly S.

doi:10.6004/jnccn.2017.0107

Cited by 11 publications

(8 citation statements)

References 19 publications

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“…9 Previous versions were validated against a BRCA1/2 mutation probability of ≥10% -a threshold that is now less frequently considered a minimum for offering genetic testing. [10][11][12][13]20 Utilizing pedigrees of individuals undergoing genetic counseling and BRCA1/2 testing, we modified B-RST™ to maximize the sensitivity for pathogenic mutations. The revised version, B-RST™ 3.0, demonstrated superiority over the 2.0 version in sensitivity (94 vs. 71%).…”

Section: Discussionmentioning

confidence: 99%

“…A recent study evaluating the NCCN testing criteria reported BRCA1/2 mutations in 3% of breast cancer patients meeting only one criterion, similar to that found in unselected breast cancer patients. 20 The authors noted that the NCCN criteria for risk evaluation (genetic counseling) are looser and utility is unclear. 20 Ease of use and consideration of limited resources for follow-up suggest that tools such as B-RST™ may be more appropriate for screening in primary care settings.…”

Section: Discussionmentioning

confidence: 99%

“…20 The authors noted that the NCCN criteria for risk evaluation (genetic counseling) are looser and utility is unclear. 20 Ease of use and consideration of limited resources for follow-up suggest that tools such as B-RST™ may be more appropriate for screening in primary care settings.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™)

Bellcross

Hermstad

Tallo

et al. 2019

Genetics in Medicine

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™)

Bellcross

Hermstad

Tallo

et al. 2019

Genetics in Medicine

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“…In 2017, Cropper and colleagues did an investigation on the predictive values of NCCN guideline for genetic testing of patients with breast cancer who are at increased risk. Consistent with our findings (Table 3), they did indicate that patients who meet !2 NCCN criteria are enriched for a gene mutation and had a significant high predictive value of over 10% (27).…”

Section: Discussionmentioning

confidence: 99%

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Ebrahimi

Sellars

Shirkoohi

et al. 2019

Cancer Prevention Research

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Because the contribution of genetic factors to the burden of breast cancer is not well investigated in Iran, we aimed to examine the prevalence of mutations in breast cancer susceptibility genes, BRCA1/2 and PALB2, and to investigate the predictive potential of hereditary breast cancer risk criteria for genetic testing in Iranian population. Next-generation sequencing was conducted on a population consisting of 299 and 125 patients with breast cancer, with and without hereditary cancer risk criteria for genetic testing, respectively. The pathogenic mutation frequency rate was 10.7% in patients with hereditary cancer criteria versus 1.6% in no criteria group (P ¼ 0.0017). None of the 107 tested patients with only young age at onset (<40) criterion had a pathogenic mutation. Patients who had only a single heritable risk criterion [OR, 6.15; 95% confidence interval (CI), 1.26-58.59; P ¼ 0.009] and patients with multiple heritable risk criteria (OR, 22.5; 95% CI,; P < 0.0001) had higher probabilities of carrying a mutation compared with no criteria group. Our results showed that young age at onset alone is not an indicator of hereditary breast cancer at least in the Iranian population. This is while women with multiple hereditary breast cancer risk criteria were enriched for BRCA1/2 mutations. Given such high risk of identification of a disease-causing mutation, multiple hereditary criteria should be regarded as a strong predictor for a hereditary breast cancer syndrome. These findings are important concerning the optimization of genetic counseling and furthermore establishing criteria for BRCA1/2 testing of the Iranian population.

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“…Studies have begun to explore the feasibility of screening unaffected patients for inherited cancer susceptibility in primary care settings [ 33 – 36 ]. In these settings, cancer family history information can be used to identify those most likely to carry a PV as well as to tailor screening regardless of whether a PV is identified [ 37 – 43 ]. National guidelines recommend testing for unaffected individuals with a significant cancer family history [ 44 ], and the Affordable Care Act mandated coverage of genetic testing for hereditary breast/ovarian cancer for unaffected individuals with appropriate family history [ 45 ].…”

Section: Introductionmentioning

confidence: 99%

Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

Kaphingst

Kohlmann

Chambers

et al. 2021

BMC Health Serv Res

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Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

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Evaluating the NCCN Clinical Criteria for RecommendingBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

Cited by 11 publications

References 19 publications

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™)

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™)

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

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