Evidence map›Paper›PMID 25579682›Full record

ArticleGenetics research2014

FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.

Yael Laitman, Liat Ries-Levavi, Michal Berkensdadt, Jacob Korach, Tamar Perri, Elon Pras, Eitan Friedman

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Age of natural menopause onset inPrzeglad menopauzalny = Menopause review · 2020
    Article
  3. 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

7 authors at 1 institution in 1 country.

Yael LaitmanSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Liat Ries-LevaviSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Michal BerkensdadtSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Jacob KorachSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Tamar PerriSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Elon PrasSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Eitan FriedmanSusanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.
Sheba Medical Center · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Premature ovarian failure and diminished ovarian reserve have been noted both in female BRCA1/BRCA2 mutation carriers and in carriers of the Fragile X syndrome FMR1 gene CGG repeat size premutation. Based on the observation that BRCA mutation carriers do not harbour long CGG repeats in the FMR1 gene, it was hypothesized that BRCA-associated premature ovarian failure is mediated via FMR1. To test this notion, we evaluated the distribution of constitutional FMR1 genotypes in 188 BRCA1/BRCA2 mutation-positive Jewish Ashkenazi women and 15 708 female, mostly Ashkenazi controls in Israel. BRCA1/BRCA2 mutation carriers displayed a unique distribution of FMR1 genotypes compared with controls (p = 0·018) with a prominence of the shorter CGG alleles (<26 repeats). There was no allele size distribution differences within BRCA carriers when comparing cancer free (n = 95) and breast cancer affected women (n = 93) (p = 0·43). In conclusion, BRCA mutation carriers exhibit a distinct CGG FMR1 repeat size pattern compared with the general population, but it is unlikely to account for the reported diminished ovarian reserve or act as a modifier breast cancer gene in BRCA mutation carriers.

Indexed as

BRCA1 ProteinBRCA2 ProteinFemaleFragile X Messenger Ribonucleoprotein 1GenotypeHumansIsraelJewsMutationPrimary Ovarian InsufficiencyStatistics, NonparametricTrinucleotide RepeatsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID25579682
PMCPMC7045097
OpenAlexW2111979085

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.