Evidence map›Paper›PMID 35655316›Full record

ArticleBMC research notes2022

Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.

Prabhavi Wijesiriwardhana, Anthony M Musolf, Joan E Bailey-Wilson, T Kalum Wetthasinghe, Vajira H W Dissanayake

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC research notes, 2022. 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
0.4field-weighted citation impact, top 33% 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, 2 citations in OpenAlex.

  1. 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

5 authors at 3 institutions in 2 countries.

Prabhavi WijesiriwardhanaDepartment of Medical Laboratory Science, Faculty of Allied Health Sciences, University of Ruhuna, Galle, Sri Lanka.
Anthony M MusolfComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 21224, USA.
Joan E Bailey-WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, 21224, USA.
T Kalum WetthasingheHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Vajira H W DissanayakeHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. vajira@anat.cmb.ac.lk.
National Institutes of Health · USUniversity of Colombo · LKUniversity of Ruhuna · LK

Funding

Genetic Epidemiology of CancerZIAHG200331 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$11.7M
University Grants Commission - Sri Lanka UGC/VC/DRIC/PG2017 (II)/RUH/02
6 · The paper itself

Abstract

objectiveAlthough linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we performed linkage analysis to identify susceptibility loci related to the inherited risk of cancer in a cohort of Sri Lankans affected with hereditary breast cancer. The Illumina global screening array having 654,027 single nucleotide polymorphism markers was performed in four families, in which at least three individuals within third degree relatives were affected by breast cancer. Two-point parametric linkage analysis was conducted assuming disease allele frequency of 1%. Penetrance was set at 90% for carriers with a 10% phenocopy rate.

resultsThirty-one variants exhibited genome-wide suggestive HLODs. The top overall HLOD score was at rs1856277, an intronic variant in MYO16 on chromosome 13. The two most informative families also suggested several candidate linked loci in genes, including ERAP1, RPRM, WWOX, CDH1, EXOC1, HUS1B, STIM1 and TUSC1. This study provides the first step in identifying germline variants that may be involved in risk of cancer in cancer-aggregated non-BRCA1/2 families from the understudied Sri Lankan population. Several candidate linked regions showed suggestive evidence of linkage to cancer risk.

Indexed as

Breast NeoplasmsAminopeptidasesCell Cycle ProteinsCohort StudiesFamilyFemaleGenetic LinkageHumansMinor Histocompatibility AntigensSri LankaTumor Suppressor ProteinsAminopeptidasesCell Cycle ProteinsERAP1 protein, humanHUS1B protein, humanMinor Histocompatibility AntigensTumor Suppressor ProteinsTUSC1 protein, humanFamilial cancerGenotypingHereditary cancersLinkage analysisWhole exome sequencing

Identifiers

PMID35655316
PMCPMC9164366
OpenAlexW4281722615

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LicenceCC BY
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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.