Evidence map›Paper›PMID 26014432›Full record

ArticleEuropean journal of human genetics : EJHG2016

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

Laura Pölsler, Heidi Fiegl, Katharina Wimmer, Willi Oberaigner, Albert Amberger, Pia Traunfellner, Raphael J Morscher, Ingrid Weber, Christine Fauth, Annekatrin Wernstedt and 5 more

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

Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

15 authors at 3 institutions in 1 country.

Laura PölslerDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Heidi FieglDepartment of Obstetrics and Gynaecology, Medical University of Innsbruck, Innsbruck, Austria.
Katharina WimmerDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Willi OberaignerDepartment of Clinical Epidemiology of the Tyrolean State Hospitals Ltd., Cancer Registry of Tyrol, Austria.
Albert AmbergerDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Pia TraunfellnerDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Raphael J MorscherDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Ingrid WeberDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Christine FauthDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Annekatrin WernstedtDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Barbara Sperner-UnterwegerDepartment of Psychiatry and Psychotherapy, Medical University of Innsbruck, Innsbruck, Austria.
Anne OberguggenbergerDepartment of Psychiatry and Psychotherapy, Medical University of Innsbruck, Innsbruck, Austria.
Michael HubalekDepartment of Obstetrics and Gynaecology, Medical University of Innsbruck, Innsbruck, Austria.
Christian MarthDepartment of Obstetrics and Gynaecology, Medical University of Innsbruck, Innsbruck, Austria.
Johannes ZschockeDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Innsbruck Medical University · ATUniversität Innsbruck · ATTyrolean Cancer Research Institute · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of the BRCA1 stop mutation c.4183C>T, p.(Gln1395Ter), was determined in unselected breast and ovarian cancer patients from different regions in the Tyrol. Cancer registry data were used to evaluate the impact of this mutation on regional cancer incidence. The mutation c.4183C>T was detected in 30.4% of hereditary BRCA1-associated breast and ovarian cancer patients in our cohort. It was also identified in 4.1% of unselected (26% of unselected triple negative) Tyrolean breast cancer patients and 6.8% of unselected ovarian cancer patients from the Lower Inn Valley (LIV) region. Cancer incidences showed a region-specific increase in age-stratified breast and ovarian cancer risk with standardized incidence ratios of 1.23 and 2.13, respectively. We, thus, report a Tyrolean BRCA1 founder mutation that correlates to a local increase in the breast and ovarian cancer risks. On the basis of its high prevalence, we suggest that targeted genetic analysis should be offered to all women with breast or ovarian cancer and ancestry from the LIV region.

Indexed as

Genetic TestingAdultAgedAged, 80 and overBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCodon, TerminatorFemaleFounder EffectHumansMiddle AgedMutationOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinBRCA2 protein, humanCodon, Terminator

Identifiers

PMID26014432
PMCPMC4717197
OpenAlexW1572620422

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.