Evidence map›Paper›PMID 29687880›Full record

ArticleBritish journal of haematology2018

Combined somatic mutation and copy number analysis in the survival of familial CLL.

Weiyin Zhou, Lynn Goldin, Mingyi Wang, Mary L McMaster, Kristine Jones, Laurie Burdett, Stephen J Chanock, Meredith Yeager, Michael Dean, Neil E Caporaso

Open access · hybridAbstract read
In one paragraph

Article in British journal of haematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 49% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
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

10 authors at 2 institutions in 1 country.

Weiyin ZhouCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, Maryland, 21702, USA.
Lynn GoldinDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA.ORCID 0000-0001-7350-446X
Mingyi WangCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, Maryland, 21702, USA.
Mary L McMasterDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA.
Kristine JonesCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, Maryland, 21702, USA.
Laurie BurdettCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, Maryland, 21702, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA.
Meredith YeagerCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, Maryland, 21702, USA.
Michael DeanDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA.ORCID 0000-0003-2234-0631
Neil E CaporasoDivision of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA.
Leidos (United States) · USNational Institutes of Health · US

Funding

Family Studies ZIACP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$56.1M
STUDIES OF PERSONS AT HIGH RISK OF CANCER--GENETIC EPIDEMIOLOGYZ01CP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI TUCKER, MARGARET · 1985 to 2008
$15.0M
Genetic Epidemiology of Chronic Lymphocytic LeukemiaU01CA118444 · NCI · MAYO CLINIC ROCHESTER · PI SLAGER, SUSAN L · 2006 to 2015
$7.1M
Single Nucleotide Polymorphisms in Cancer Related GenesZ01BC005652 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI DEAN, MICHAEL · 1996 to 2008
$1.9M
CCR NIH HHS HHSN261200800001CIntramural NIH HHS Z01 BC005652Intramural NIH HHS Z01 CP004410NCI NIH HHS HHSN261200800001ENCI NIH HHS U01 CA118444
6 · The paper itself

Abstract

Recurrent large-scale somatic copy number alterations (SCNAs), and somatic point mutations can be analysed to stratify patients with chronic lymphocytic leukaemia (CLL) into distinct prognostic groups. To investigate the relationship between SCNAs and somatic mutations, we performed whole-exome sequencing and single nucleotide polymorphism microarray analyses on 98 CLL patients from 40 families with a high burden of CLL. Overall, 69 somatic mutations in 29 CLL driver genes were detected among 45 subjects (46%), with the most frequently mutated genes being TP53 (8·2%), NOTCH1 (8·2%) and ATM (5·1%). Additionally, 142 SCNAs from 54 subjects (57%) were detected, including losses of chromosome 13q14 (28·9%), 11q (5·6%), 17p (2·1%), and gain of chromosome 12 (4·2%). We found that patients having both an adverse point mutation in a CLL driver gene and an unfavourable SCNA tended to have poorer survival (Hazard ratio [HR] = 3·17, 95% confidence interval [CI] = 0·97-10·35; P = 0·056) than patients having either a point mutation (HR = 1·34, 95%CI = 0·66-2·71; P = 0·42) or SCNAs (HR = 2·65, 95%CI = 0·77-9·13; P = 0·12). TP53 mutation carriers were associated with the poorest overall survival (HR = 4·39, 95%CI = 1·28-15·04; P = 0·018). Our study suggests that combining SCNA and mutational data could contribute to predicting outcome in familial CLL.

Indexed as

DNA Copy Number VariationsPoint MutationChromosomes, HumanDisease-Free SurvivalFemaleHumansLeukemia, Lymphocytic, Chronic, B-CellMaleNeoplasm ProteinsSurvival RateNeoplasm ProteinsaneuploidyCLLmosaicismsomatic mutationstructural variation

Identifiers

PMID29687880
PMCPMC6010231
OpenAlexW2799802262

What OpenQuestion holds

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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.