Evidence map›Paper›PMID 28482133›Full record

ArticleBiometrics2018

Estimating the probability of clonal relatedness of pairs of tumors in cancer patients.

Audrey Mauguen, Venkatraman E Seshan, Irina Ostrovnaya, Colin B Begg

Abstract read
In one paragraph

Article in Biometrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–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.

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

9 citing papers in PubMed.

  1. Identifying Locally Recurrent Versus Second Primary Breast Cancer: Genomic Versus Clinical Criteria from Carolina Breast Cancer Study Phase III.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
    Trial
  2. Analysis of Shared Variants between Cancer Biospecimens.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
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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

4 authors.

Audrey MauguenDepartment of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, 485 Lexington Avenue, 2nd Floor, New York, New York 10017, U.S.A.ORCID 0000-0003-3236-6093
Venkatraman E SeshanDepartment of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, 485 Lexington Avenue, 2nd Floor, New York, New York 10017, U.S.A.
Irina OstrovnayaDepartment of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, 485 Lexington Avenue, 2nd Floor, New York, New York 10017, U.S.A.
Colin B BeggDepartment of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, 485 Lexington Avenue, 2nd Floor, New York, New York 10017, U.S.A.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Statistical Strategies for Establishing Etiologic Heterogeneity of TumorsR01CA163251 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI BEGG, COLIN B · 2012 to 2015
$1.5M
Statistical Methods for Identifying Clonal TumorsR01CA124504 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI BEGG, COLIN B · 2009 to 2011
$1.1M
NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA124504NCI NIH HHS R01 CA163251
6 · The paper itself

Abstract

Next generation sequencing panels are being used increasingly in cancer research to study tumor evolution. A specific statistical challenge is to compare the mutational profiles in different tumors from a patient to determine the strength of evidence that the tumors are clonally related, that is, derived from a single, founder clonal cell. The presence of identical mutations in each tumor provides evidence of clonal relatedness, although the strength of evidence from a match is related to how commonly the mutation is seen in the tumor type under investigation. This evidence must be weighed against the evidence in favor of independent tumors from non-matching mutations. In this article, we frame this challenge in the context of diagnosis using a novel random effects model. In this way, by analyzing a set of tumor pairs, we can estimate the proportion of cases that are clonally related in the sample as well as the individual diagnostic probabilities for each case. The method is illustrated using data from a study to determine the clonal relationship of lobular carcinoma in situ with subsequent invasive breast cancers, where each tumor in the pair was subjected to whole exome sequencing. The statistical properties of the method are evaluated using simulations, demonstrating that the key model parameters are estimated with only modest bias in small samples in most configurations.

Indexed as

Models, StatisticalMutationBreast NeoplasmsCarcinoma, LobularClone CellsComputer SimulationExome SequencingFemaleHumansNeoplasm InvasivenessClonal relatednessConditional likelihoodDiagnostic probabilityMutational testingRandom effects

Identifiers

PMID28482133
PMCPMC5677588

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Registered trials

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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.