Evidence map›Paper›PMID 27716388›Full record

ReviewBreast cancer research : BCR2016

The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance.

Andrew D Skol, Mark M Sasaki, Kenan Onel

Open access · goldAbstract readReview
In one paragraph

Review in Breast cancer research : BCR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 3 pooled it
9.9field-weighted citation impact, top 2% 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

37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 90 citations in OpenAlex.

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  16. Detecting the Frequency of c.5946delT Pathogenic Variant in theBreast cancer (Dove Medical Press) · 2023
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  20. A clinical case of diagnosis of breast cancer in patients with family history ofReports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2021
    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

3 authors at 2 institutions in 1 country.

Andrew D SkolDepartment of Pediatrics, The University of Chicago, Chicago, IL, 60637, USA.
Mark M SasakiDepartment of Biology, Hamilton College, Clinton, NY, 13323, USA.
Kenan OnelDepartment of Pediatrics, The University of Chicago, Chicago, IL, 60637, USA. konel@northwell.edu.ORCID 0000-0002-2021-6250
University of Chicago · USHamilton College · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

More than 12 % of women will be diagnosed with breast cancer in their lifetime. Although there have been tremendous advances in elucidating genetic risk factors underlying both familial and sporadic breast cancer, much of the genetic contribution to breast cancer etiology remains unknown. The discovery of BRCA1 and BRCA2 over 20 years ago remains the seminal event in the field and has paved the way for the discovery of other high-penetrance susceptibility genes by linkage analysis. The advent of genome-wide association studies made possible the next wave of discoveries, in which over 80 low-penetrance and moderate-penetrance variants were identified. Although these studies were highly successful at discovering variants associated with both familial and sporadic breast cancer, the variants identified to date explain only 50 % of the heritability of breast cancer. In this review, we look back at the investigative strategies that have led to our current understanding of breast cancer genetics, consider the challenges of performing association studies in heterogeneous complex diseases such as breast cancer, and look ahead toward the types of study designs that may lead to the identification of the genetic variation accounting for the remaining missing heritability.

Indexed as

Genetic Predisposition to DiseaseGenomicsBreast NeoplasmsEnvironmentFamilyFemaleGene-Environment InteractionGenes, BRCA1Genes, BRCA2Genetic Association StudiesGenetic LinkageGenetic VariationGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansPenetranceGeneticsGenome-wide association studyGenomicsLinkage analysisNext-generation sequencingPenetrancePredisposition

Identifiers

PMID27716388
PMCPMC5048663
OpenAlexW2528667185

What OpenQuestion holds

Textmetadata
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.