Evidence map›Paper›PMID 22701786›Full record

ArticleAnemia2012

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J Israels, Fré Arwert, Michel Zwaan, Cheryl R Greenberg, Blanche P Alter, Hans Joenje and 1 more

Open access · goldAbstract read
In one paragraph

Article in Anemia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.4field-weighted citation impact, top 37% 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

14 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
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  3. Article
  4. Review
  5. Article
  6. Article
  7. Mitophagy in tumorigenesis and metastasis.Cellular and molecular life sciences : CMLS · 2021
    Review
  8. Article
  9. Identification of Three Novel Mutations in theInternational journal of preventive medicine · 2020
    Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. 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

11 authors at 5 institutions in 3 countries.

Yne de VriesDepartment of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.
Nikki Lwiwski
Marieke Levitus
Bertus Kuyt
Sara J Israels
Fré Arwert
Michel Zwaan
Cheryl R Greenberg
Blanche P Alter
Hans Joenje
Hanne Meijers-Heijboer
Amsterdam UMC Location VUmc · NLUniversity of Manitoba · CAErasmus MC - Sophia Children’s Hospital · NLNational Cancer Institute · USZiekenhuis Amstelland · NL

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
6 · The paper itself

Abstract

Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes have been identified. Founder mutations have been found in different FA genes in several populations. The majority of Dutch FA patients belongs to complementation group FA-C. Here, we report 15 patients of Dutch ancestry and a large Canadian Manitoba Mennonite kindred carrying the FANCC c.67delG mutation. Genealogical investigation into the ancestors of the Dutch patients shows that these ancestors lived in four distinct areas in The Netherlands. We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.

Identifiers

PMID22701786
PMCPMC3372307
OpenAlexW2159922126

What OpenQuestion holds

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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.