Evidence map›Paper›PMID 33283134›Full record

ArticleJCO precision oncology2020

Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Rachel E Rosenblum, Celina Ang, Sabrina A Suckiel, Emily R Soper, Meenakshi R Sigireddi, Sinead Cullina, Gillian M Belbin, Aimee L Lucas, Eimear E Kenny, Noura S Abul-Husn

Open access · bronzeAbstract read
In one paragraph

Article in JCO precision oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 23% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Gastrointestinal Cancer Precursor Conditions and Their Detection.Hematology/oncology clinics of North America · 2024
    Review
  10. Article
  11. Review
  12. When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.American journal of medical genetics. Part C, Seminars in medical genetics · 2023
    Review
  13. Global medical genetics · 2023
    Article
  14. Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  15. Review
  16. 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

10 authors at 2 institutions in 1 country.

Rachel E RosenblumDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Celina AngDivision of Hematology and Medical Oncology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0001-6057-6026
Sabrina A SuckielThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0003-3333-7526
Emily R SoperThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0002-7289-1418
Meenakshi R SigireddiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Sinead CullinaThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0003-1946-7746
Gillian M BelbinThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Aimee L LucasHenry D. Janowitz Division of Gastroenterology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0003-0341-4826
Eimear E KennyThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0001-9198-759X
Noura S Abul-HusnThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.ORCID https://orcid.org/0000-0002-5179-1944
Genomic Health (United States) · USIcahn School of Medicine at Mount Sinai · US

Funding

New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
Incorporating genomics into the clinical care of diverse NYC childrenU01HG009610 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D, HOROWITZ, CAROL R · 2017 to 2021
$17.0M
Genomic risk in clinic care to promote health equity in New York City patientsU01HG011176 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NOURA SERENE ABUL-HUSN, Eimear Elizabeth Kenny · 2020 to 2026
$10.4M
PAGE III: Population Architecture using Genomics and EpidemiologyR01HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI GIGNOUX, CHRISTOPHER R, MATISE, TARA C. · 2019 to 2022
$6.5M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
Diverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5M
Study of coding variants in human obesity and their functional characterization using human iPSC-derived cellular modelsR01DK110113 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2016 to 2020
$2.8M
EPA EP-C-16-015NHGRI NIH HHS R01 HG010297NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U01 HG009610NHGRI NIH HHS U01 HG011176NHLBI NIH HHS R01 HL104608NIDDK NIH HHS R01 DK110113
6 · The paper itself

Abstract

purposeLimited data are available on the prevalence and clinical impact of Lynch syndrome (LS)-associated genomic variants in non-European ancestry populations. We identified and characterized individuals harboring LS-associated variants in the ancestrally diverse Bio PATIENTS AND

methodsExome sequence data from 30,223 adult Bio

resultsWe identified 70 individuals (0.2%) harboring LS-associated variants in

conclusionWe found a higher prevalence of LS-associated variants among individuals of African ancestry in New York City. Although cancer risk is significantly increased among variant-positive individuals, the majority do not harbor a clinical diagnosis of LS, suggesting underrecognition of this disease.

Identifiers

PMID33283134
PMCPMC7713527
OpenAlexW3109376133

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.