Evidence map›Paper›PMID 22672556›Full record

ReviewBMC cancer2012

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

Karin Kast, Mechthild Krause, Markus Schuler, Katrin Friedrich, Barbara Thamm, Andrea Bier, Wolfgang Distler, Stefan Krüger

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in BMC cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
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  5. Review
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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

8 authors at 6 institutions in 1 country.

Karin KastKlinik und Poliklinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Carl Gustav Carus, Fetscherstr, 74, 01307, Dresden, Germany. karin.kast@uniklinikum-dresden.de
Mechthild Krause
Markus Schuler
Katrin Friedrich
Barbara Thamm
Andrea Bier
Wolfgang Distler
Stefan Krüger
Klinik und Poliklinik für Psychotherapie und Psychosomatik · DEPraxis für Humangenetik · DEKlinik für Frauenheilkunde · DEKlinik und Poliklinik für Frauenheilkunde und GeburtshilfeMedizinisches Versorgungszentrum Prof. Mathey, Prof. Schofer · DEUniversity Hospital Carl Gustav Carus · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLi-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. CASE REPORT: We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients.

conclusionManagement of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

Indexed as

AdultBreast NeoplasmsFemaleGenetic CounselingHeterozygoteHumansLi-Fraumeni SyndromeLiposarcomaTumor Suppressor Protein p53Tumor Suppressor Protein p53

Identifiers

PMID22672556
PMCPMC3487792
OpenAlexW2006636518

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.