Evidence map›Paper›PMID 33794268›Full record

ArticleGastroenterology2021

Familial Burden and Other Clinical Factors Associated With Various Types of Cancer in Individuals With Lynch Syndrome.

Leah H Biller, Miki Horiguchi, Hajime Uno, Chinedu Ukaegbu, Sapna Syngal, Matthew B Yurgelun

Open access · bronzeAbstract read
In one paragraph

Article in Gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 12% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Gastrointestinal Cancer Precursor Conditions and Their Detection.Hematology/oncology clinics of North America · 2024
    Review
  5. Review
  6. Article
  7. Observational
  8. Article
  9. Review
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 3 institutions in 1 country.

Leah H BillerDana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Brigham & Women's Hospital, Boston, Massachusetts.
Miki HoriguchiDana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Hajime UnoDana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Chinedu UkaegbuDana-Farber Cancer Institute, Boston, Massachusetts.
Sapna SyngalDana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Brigham & Women's Hospital, Boston, Massachusetts.
Matthew B YurgelunDana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Brigham & Women's Hospital, Boston, Massachusetts. Electronic address: matthew_yurgelun@dfci.harvard.edu.
Brigham and Women's Hospital · USHarvard University · USDana-Farber Cancer Institute · US

Funding

Validation and extension of the PREMM Model for mismatch repair gene mutationsR01CA132829 · NCI · DANA-FARBER CANCER INST · PI SYNGAL, SAPNA · 2008 to 2022
$5.6M
NCI NIH HHS R01 CA132829
6 · The paper itself

Abstract

BACKGROUND &

aimsLynch syndrome (LS) is associated with increased risks of various gastrointestinal, gynecologic, genitourinary, and other cancers. Many clinical practice guidelines recommend that LS carriers' screening strategies be devised based on their family history of various cancers, in addition to age-, sex-, and gene-specific considerations. The aim of this study was to examine the association between family history and other clinical factors with LS carriers' histories of various cancers.

methodsTwo cohorts of LS carriers were analyzed: a laboratory-based cohort of consecutively ascertained individuals undergoing germline LS testing and a clinic-based cohort of LS carriers undergoing clinical care at an academic medical center. Multivariable logistic regression was performed to assess clinical factors associated with LS carriers' histories of various cancers/neoplasms. Familial burden was defined as LS carriers' aggregate number of first-/second-degree relatives with a history of a given malignancy.

resultsMultivariable analysis of the laboratory-based cohort (3828 LS carriers) identified familial burden as being incrementally associated with LS carriers' personal history of endometrial (odds ratio [OR], 1.37 per affected first-/second-degree relative; 95% confidence interval [CI], 1.21-1.56), urinary tract (OR, 2.72; 95% CI, 2.02-3.67), small bowel (OR, 3.17; 95% CI, 1.65-6.12), gastric (OR, 1.93; 95% CI, 1.24-3.02), and pancreaticobiliary cancers (OR, 2.10; 95% CI, 1.21-3.65) and sebaceous neoplasms (OR, 7.39; 95% CI, 2.71-20.15). Multivariable analysis of the clinic-based cohort (607 LS carriers) confirmed a significant association of familial burden of endometrial and urinary tract cancers.

conclusionsFamilial burden - in addition to age, sex, and specific LS gene - should be used to assess LS carriers' risks of specific cancers and guide decision-making about organ-specific surveillance.

Indexed as

DNA Mismatch RepairGerm-Line MutationAdultAge FactorsBiomarkers, TumorColorectal Neoplasms, Hereditary NonpolyposisCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHeredityHumansMaleMiddle AgedPedigreePhenotypeRisk AssessmentBiomarkers, TumorExtracolonicHNPCCScreening

Identifiers

PMID33794268
PMCPMC9115644
OpenAlexW3147643967

What OpenQuestion holds

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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.