Evidence map›Paper›PMID 24651610›Full record

ArticlePLoS genetics2014

Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer.

Clarice R Weinberg, Min Shi, Lisa A DeRoo, Jack A Taylor, Dale P Sandler, David M Umbach

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 19% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. 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

6 authors at 2 institutions in 1 country.

Clarice R WeinbergBiostatistics Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
Min ShiBiostatistics Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
Lisa A DeRooEpidemiology Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
Jack A TaylorEpidemiology Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
Dale P SandlerEpidemiology Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
David M UmbachBiostatistics Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, United States of America.
National Institute of Environmental Health Sciences · USTriangle · US

Funding

Environmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7M
Genetic Susceptibility And The Environment In Cancer RiskZIAES049033 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI TAYLOR, JACK A · 2009 to 2022
$7.7M
Statistical Methods For Genetic EpidemiologyZIAES040007 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 2009 to 2025
$6.5M
Statistical Methods For Gene/environment Interaction And Genetic SusceptibilityZIAES045002 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI UMBACH, DAVID M · 2009 to 2025
$830k
STATISTICAL METHODS IN REPRODUCTIVE EPIDEMIOLOGYZ01ES040007 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WEINBERG, CLARICE · 1997 to 2008
$512k
Statistics /Gene environment Interaction /genetic suscepZ01ES045002 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI UMBACH, DAVID M · 1996 to 2008
$91k
Intramural NIH HHS Z01 ES040007Intramural NIH HHS Z01 ES045002NIEHS NIH HHS Z01-ES040007NIEHS NIH HHS Z01-ES45002
6 · The paper itself

Abstract

Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, reflecting the maternal genome's influence on prenatal development; 2. mitochondrial variants, which are inherited maternally; 3. autosomal genes, whose effects depend on parent of origin. We algebraically show that small asymmetries in family histories of affected individuals may reflect much larger genetic risks acting via those mechanisms. We apply these ideas to a study of sisters of women with breast cancer. Among 5,091 distinct families of women reporting that exactly one grandmother had breast cancer, risk was skewed toward maternal grandmothers (p<0.0001), especially if the granddaughter was diagnosed between age 45 and 54. Maternal genetic effects, mitochondrial variants, or variant genes with parent-of-origin effects may influence risk of perimenopausal breast cancer.

Indexed as

Genetic Predisposition to DiseaseMaternal-Fetal RelationsBreast NeoplasmsFamilyFemaleGenome-Wide Association StudyHumansMitochondriaModels, TheoreticalRisk Factors

Identifiers

PMID24651610
PMCPMC3961172
OpenAlexW2022734716

What OpenQuestion holds

Textmetadata
LicenceCC0
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.