Evidence map›Paper›PMID 27296296›Full record

ReviewNature reviews. Clinical oncology2016

Counselling framework for moderate-penetrance cancer-susceptibility mutations.

Nadine Tung, Susan M Domchek, Zsofia Stadler, Katherine L Nathanson, Fergus Couch, Judy E Garber, Kenneth Offit, Mark E Robson

Abstract readReview
In one paragraph

Review in Nature reviews. Clinical oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 160 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
160citing papers in PubMed, 4 pooled it
41.1field-weighted citation impact, top 1% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

160 citing papers in PubMed, 4 syntheses or guidelines pooled it, 309 citations in OpenAlex.

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100 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 6 institutions in 1 country.

Nadine TungDivision of Hematology-Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215, USA.
Susan M DomchekAbramson Cancer Center, 3400 Spruce Street, Philadelphia, Pennsylvania 19104, USA, and the Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Zsofia StadlerClinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Avenue; and the Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Katherine L NathansonAbramson Cancer Center, 3400 Spruce Street, Philadelphia, Pennsylvania 19104, USA, and the Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
Fergus CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street South West, Rochester, Minnesota 55905, USA.
Judy E GarberDana-Farber Cancer Institute, 450 Brookline Avenue, Boston, Massachusetts 02215, USA.
Kenneth OffitClinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Avenue; and the Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Mark E RobsonClinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Avenue; and the Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Memorial Sloan Kettering Cancer Center · USUniversity of Pennsylvania · USBeth Israel Deaconess Medical Center · USCornell University · USDana-Farber Cancer Institute · USMayo Clinic · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical validity for some gene variants and the uncertain clinical utility of most multigene panels. So-called 'moderate-penetrance' gene mutations associated with cancer susceptibility are identified in approximately 2-5% of individuals referred for clinical testing; some of these mutations are potentially actionable. Nevertheless, the appropriate management of individuals harbouring such moderate-penetrance genetic variants is unclear. The cancer risks associated with mutations in moderate-penetrance genes are lower and different than those reported for high-penetrance gene mutations (such as mutations in BRCA1 and BRCA2, and those associated with Lynch syndrome). The extrapolation of guidelines for the management of individuals with high-penetrance variants of cancer-susceptibility genes to the clinical care of patients with moderate-penetrance gene mutations could result in substantial harm. Thus, we provide a framework for clinical decision-making pending the development of a sufficient evidence base to document the clinical utility of the interventions for individuals with inherited moderate-penetrance gene mutations associated with an increased risk of cancer.

Indexed as

Genetic CounselingAdultAgedAged, 80 and overAge FactorsBreast NeoplasmsColorectal NeoplasmsEarly Detection of CancerFemaleGenetic Predisposition to DiseaseHumansMagnetic Resonance ImagingMammographyMastectomyMiddle AgedMutation

Identifiers

PMID27296296
PMCPMC5513673
OpenAlexW2425061965

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.