Evidence map›Paper›PMID 28185119›Full record

ArticleFamilial cancer2017

Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Globally RareFrontiers in oncology · 2020
    Article
  6. Essential Role of BRCA2 in Ovarian Development and Function.The New England journal of medicine · 2018
    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

8 authors at 4 institutions in 1 country.

Candice FebenDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa. candice.feben@nhls.ac.za.ORCID 0000-0002-1296-3547
Careni SpencerDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa.
Anneline LochanDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa.
Nakita LaingDivision of Human Genetics & The Department of Medicine, The University of Cape Town, Cape Town, South Africa.
Karen FieggenDivision of Human Genetics & The Department of Medicine, The University of Cape Town, Cape Town, South Africa.
Engela HoneyDepartment of Human Genetics, Steve Biko Pretoria Academic Hospital & The University of Pretoria, Pretoria, South Africa.
Tasha WainsteinFaculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.
Amanda KrauseDivision of Human Genetics, National Health Laboratory Service & School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Cnr Hospital & De Korte Street, Braamfontein, Johannesburg, 2000, South Africa.
National Health Laboratory Service · ZAUniversity of Cape Town · ZASteve Biko Hospital · ZAUniversity of the Witwatersrand · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors. Parents of affected individuals are obligate carriers for heterozygous BRCA2 mutations and are thus potentially at risk for adult onset cancers which fall within the hereditary breast and ovarian cancer spectrum. We present two cases of black South African patients with FA diagnosed with biallelic BRCA2 mutations and discuss the phenotypic consequences and implications for them and their families. Recognition of this severe end of the phenotypic spectrum of FA is critical in allowing for confirmation of the diagnosis as well as cascade screening and appropriate care of family members.

Indexed as

BRCA2 ProteinChild, PreschoolFanconi AnemiaFemaleGenes, BRCA2Genetic Predisposition to DiseaseHumansInfantInfant, NewbornMaleMutationPedigreeSouth AfricaBRCA2 ProteinBRCA2 protein, humanBlack South African patientsBRCA2 mutationsCascade screeningFanconi anaemiaHereditary breast and ovarian cancer syndrome

Identifiers

PMID28185119
OpenAlexW2587153355

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.