Evidence map›Paper›PMID 30526229›Full record

ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2019

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Peter D Beitsch, Pat W Whitworth, Kevin Hughes, Rakesh Patel, Barry Rosen, Gia Compagnoni, Paul Baron, Rache Simmons, Linda Ann Smith, Ian Grady and 17 more

Registry-linked trialAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 207 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
207citing papers in PubMed, 6 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04533555 nacompletednot on this mapstarted 2020, after this paper: background citation

Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer

TypeinterventionalSponsorUniversity of PennsylvaniaRan2020 to 2025Enrolled749ConditionsCancerArmsBroad gene panel for young adult cancers, Standard
3 · Its place in the literature

Who cites it

207 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
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  3. Systematic mapping review of guidelines forInternational journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023
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  13. Facilitated cascade testing (FaCT): a randomized controlled trial.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2021
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147 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Peter D Beitsch1 Dallas Surgical Group-TME/Breast Care Network, Dallas, TX.
Pat W Whitworth2 Nashville Breast-TME/Breast Care Network, Nashville, TN.
Kevin Hughes3 Massachusetts General Hospital, Boston, MA.
Rakesh PatelGood Samaritan Hospital-TME/Breast Care Network, Los Gatos, CA.
Barry Rosen5 Advanced Surgical Care of Northern Illinois, Barrington, IL.
Gia Compagnoni5 Advanced Surgical Care of Northern Illinois, Barrington, IL.
Paul Baron6 Roper St Francis Healthcare, Charleston, SC.
Rache Simmons7 Weill Cornell Medicine, New York, NY.
Linda Ann Smith8 Linda Ann Smith, MD, Albuquerque, NM.
Ian Grady9 North Valley Breast Clinic, Redding, CA.
Michael Kinney10 Center for Advanced Breast Care, Arlington Heights, IL.
Cynara Coomer11 Staten Island University Hospital, Staten Island, NY.
Karen Barbosa12 Alaska Breast Care Specialists, Anchorage, AK.
Dennis R Holmes13 Dennis R. Holmes, MD, Los Angeles, CA.
Eric Brown14 Comprehensive Breast Care, Troy, MI.
Linsey Gold14 Comprehensive Breast Care, Troy, MI.
Patricia Clark15 Ironwood Cancer and Research Center, Scottsdale, AZ.
Lee Riley16 St Luke's University Health Network, Easton, PA.
Samuel Lyons17 Lyons Care Associates, Kahului, HI.
Antonio Ruiz18 Chesapeake Regional Medical Center, Chesapeake, VA.
Sadia Kahn19 Hoag Hospital, Newport Beach, CA.
Heather MacDonald19 Hoag Hospital, Newport Beach, CA.
Lisa Curcio20 Breastlink, Laguna Hills, CA.
Mary Kay Hardwick21 Targeted Medical Education, Allentown, PA.
Shan Yang22 Invitae, San Francisco, CA.
Ed D Esplin22 Invitae, San Francisco, CA.
Robert L Nussbaum22 Invitae, San Francisco, CA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeAn estimated 10% of breast and ovarian cancers result from hereditary causes. Current testing guidelines for germ line susceptibility genes in patients with breast carcinoma were developed to identify carriers of BRCA1/ 2 variants and have evolved in the panel-testing era. We evaluated the capability of the National Comprehensive Cancer Network (NCCN) guidelines to identify patients with breast cancer with pathogenic variants in expanded panel testing.

methodsAn institutional review board-approved multicenter prospective registry was initiated with 20 community and academic sites experienced in cancer genetic testing and counseling. Eligibility criteria included patients with a previously or newly diagnosed breast cancer who had not undergone either single- or multigene testing. Consecutive patients 18 to 90 years of age were consented and underwent an 80-gene panel test. Health Insurance Portability and Accountability Act-compliant electronic case report forms collected information on patient demographics, diagnoses, phenotypes, and test results.

resultsMore than 1,000 patients were enrolled, and data records for 959 patients were analyzed; 49.95% met NCCN criteria, and 50.05% did not. Overall, 8.65% of patients had a pathogenic/likely pathogenic (P/LP) variant. Of patients who met NCCN guidelines with test results, 9.39% had a P/LP variant. Of patients who did not meet guidelines, 7.9% had a P/LP variant. The difference in positive results between these groups was not statistically significant (Fisher's exact test P = .4241).

conclusionOur results indicate that nearly half of patients with breast cancer with a P/LP variant with clinically actionable and/or management guidelines in development are missed by current testing guidelines. We recommend that all patients with a diagnosis of breast cancer undergo expanded panel testing.

Indexed as

MutationAdolescentAdultAgedAged, 80 and overBiomarkers, TumorBreast NeoplasmsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenetic TestingGuideline AdherenceHeredityHumansMiddle AgedPedigreeBiomarkers, Tumor

Identifiers

PMID30526229
PMCPMC6380523

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.