Evidence map›Paper›PMID 9150152›Full record

ArticleAmerican journal of human genetics1997

A low proportion of BRCA2 mutations in Finnish breast cancer families.

P Vehmanen, L S Friedman, H Eerola, L Sarantaus, S Pyrhönen, B A Ponder, T Muhonen, H Nevanlinna

Abstract read
In one paragraph

Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
–field-weighted citation impact
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

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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

19 citing papers in PubMed.

  1. Estrogen receptor genes variations and breast cancer risk in Iran.International journal of clinical and experimental medicine · 2012
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  14. The genetics of inherited breast cancer.Journal of mammary gland biology and neoplasia · 1998
    Review
  15. Article
  16. Article
  17. Article
  18. Population genetics of BRCA1 and BRCA2.American journal of human genetics · 1997
    Article
  19. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

P VehmanenDepartment of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland.
L S Friedman
H Eerola
L Sarantaus
S Pyrhönen
B A Ponder
T Muhonen
H Nevanlinna

Funding

Wellcome Trust
6 · The paper itself

Abstract

One hundred breast cancer families were identified at the Helsinki University Central Hospital in Finland and were screened for germ-line mutations in the coding regions and splice boundaries of the BRCA2 gene. Eight families (8%) were found to carry five different mutations, all of which are predicted to prematurely truncate the protein product. These BRCA2 families have early-onset breast cancer (mean and median age = 49 years), with four of the eight families including ovarian cancer but with no families including male breast cancer. A wide spectrum of other cancers also is seen in these families. Three mutations were identified in more than one family, and haplotype analysis in the families suggested a common founder for each recurrent mutation. One recurrent mutation, 999del5, previously has been noted as a common mutation in Iceland. The relationship between the Icelandic 999del5 mutation and the Finnish 999del5 mutation was explored by comparison of families from both countries. A common haplotype covering a minimal region intragenic to the BRCA2 gene was shared between the Icelandic and the Finnish mutation carriers.

Indexed as

MutationAdultAgedBRCA2 ProteinBreast NeoplasmsFemaleFinlandFounder EffectHaplotypesHumansIcelandMiddle AgedNeoplasm ProteinsOvarian NeoplasmsPedigreePolymorphism, GeneticBRCA2 ProteinNeoplasm ProteinsTranscription Factors

Identifiers

PMID9150152
PMCPMC1712419

What OpenQuestion holds

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Registered trials

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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.