Evidence map›Paper›PMID 33762291›Full record

ArticleBMJ case reports2021

Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.

Stavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos Vlahos

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 97% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 4 institutions in 2 countries.

Stavroula KastoraAcute Medicine, Grampian University Hospitals NHS Trust, Aberdeen, UK stavroula.kastora@abdn.ac.uk.ORCID http://orcid.org/0000-0003-4470-5267
Olga TriantafyllidouReproductive Medicine Unit, "Leto" Maternity Hospital, Athens, Greece.
Georgios KounidasSchool of Medicine, University of Aberdeen College of Life Sciences & Medicine, Aberdeen, UK.
Nikolaos Vlahos2nd Department of Obstetrics and Gynaecology, Aretaieion Panepistemiako Nosokomeio, Athens, Attica, Greece.
Aretaeio Hospital · GRLETO Maternity Hospital · GRPennine Acute Hospitals NHS Trust · GBUniversity of Aberdeen · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fanconi anaemia is a heterogeneous condition associated with mutations in the Fanconi anaemia complementation group (FANC). The FANC group has also been extensively associated with tumourigenesis due to its intricate association with the cellular repair mechanism. In this case report, we are drawing initial associations between a previously unreported FANC-A gene point mutation (P1222L) and familial breast cancer, by examining the presentation and management of a 65-year-old female patient with history of bilateral breast cancer of two different histological categories (ductal and in situ lobular). Here, we present a further genetic analysis beyond the common clinical practice to understand the patient's genetic predisposition and improve their long-term management.

Indexed as

Breast NeoplasmsFanconi AnemiaAgedFanconi Anemia Complementation Group A ProteinFemaleGenetic Predisposition to DiseaseHumansMutationNeoplasm Recurrence, LocalFANCA protein, humanFanconi Anemia Complementation Group A Proteingenetic screening / counsellinggynaecology and fertilityobstetrics

Identifiers

PMID33762291
PMCPMC7993164
OpenAlexW3137946374

What OpenQuestion holds

Textmetadata
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.