Evidence map›Paper›PMID 39408606›Full record

ArticleInternational journal of molecular sciences2024

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Rolando André Rios Villacis, Luiza Côrtes, Tatiane Ramos Basso, Luisa Matos do Canto, Jeferson Santos Souza, Mads Malik Aagaard, Maria Nirvana da Cruz Formiga, Samuel Aguiar, Maria Isabel Achatz, Silvia Regina Rogatto

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
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  4. Article
  5. Review
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.

Rolando André Rios VillacisDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.ORCID 0000-0003-3851-2696
Luiza CôrtesDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.
Tatiane Ramos BassoDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.
Luisa Matos do CantoDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.ORCID 0000-0001-9095-9431
Jeferson Santos SouzaHealth Technology Institute, SENAI CIMATEC, Salvador 41650-010, BA, Brazil.ORCID 0000-0002-4129-8769
Mads Malik AagaardDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.ORCID 0000-0003-4742-7047
Maria Nirvana da Cruz FormigaDepartment of Oncogenetics and Clinical Oncology, A.C. Camargo Cancer Center, São Paulo 01509-010, SP, Brazil.ORCID 0000-0002-1187-1384
Samuel AguiarColorectal Cancer Reference Center, A.C. Camargo Cancer Center, São Paulo 01509-010, SP, Brazil.
Maria Isabel AchatzCancer Genetics Unit, Oncology Branch, Hospital Sirio-Libanês, São Paulo 01308-050, SP, Brazil.ORCID 0000-0001-6894-1219
Silvia Regina RogattoDepartment of Clinical Genetics, University Hospital of Southern Denmark, Beriderbakken 4, 7100 Vejle, Denmark.ORCID 0000-0003-4637-5687

Funding

National Institute of Science and Technology in Oncogenomics FAPESP 2008/57887-9 and CNPq 573589/08-9
6 · The paper itself

Abstract

A hereditary component of breast (BC) and colorectal cancer (CRC) has been described in approximately one-third of these tumor types. BC patients have an increased risk of developing CRC as a second primary tumor and vice versa. Germline genomic variants (NextSeq550, Illumina) were investigated in 24 unrelated BC and/or CRC patients and 7 relatives from 3 index patients. Fifty-six pathogenic or likely pathogenic variants were identified in 19 of 24 patients. We detected single-nucleotide variants (SNVs) in CRC predisposition genes (

Indexed as

Breast NeoplasmsColorectal NeoplasmsDNA RepairGenetic Predisposition to DiseaseGerm-Line MutationAdultAgedDNA Copy Number VariationsDNA DamageDNA GlycosylasesFemaleHumansMaleMiddle AgedMutL Protein Homolog 1Neoplasms, Second PrimaryDNA GlycosylasesMLH1 protein, humanMutL Protein Homolog 1mutY adenine glycosylasebreast cancercancer predispositioncolorectal cancergermline variantshereditary cancerwhole exome sequencing

Identifiers

PMID39408606
PMCPMC11476855

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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.