Evidence map›Paper›PMID 38809542›Full record

ArticleCancer2024

The role of family history in predicting germline pathogenic variant carriers who develop pancreatic cancer: Results of a multicenter collaboration.

Eve Karloski, Beth Dudley, Brenda Diergaarde, Amie Blanco, Jessica N Everett, Elana Levinson, Tara Rangarajan, Peter P Stanich, Kimberly Childers, Sandra Brown and 15 more

Abstract readMulticenter Study
In one paragraph

Article in Cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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

1 citing paper in PubMed.

  1. 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

25 authors.

Eve KarloskiDepartment of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-2916-0425
Beth DudleyDepartment of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-8464-6014
Brenda DiergaardeDepartment of Human Genetics, University of Pittsburgh and Hillman Cancer Center, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Amie BlancoCancer Genetics and Prevention Program, University of California San Francisco, San Francisco, California, USA.
Jessica N EverettDepartment of Medicine, New York University Langone Health, New York, New York, USA.ORCID https://orcid.org/0000-0002-4894-8891
Elana LevinsonDepartment of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Tara RangarajanNancy and James Grosfeld Cancer Genetics Center, Corewell Health William Beaumont University Hospital, Royal Oak, Michigan, USA.
Peter P StanichDivision of Gastroenterology, Hepatology and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Kimberly ChildersCenter for Clinical Genetics and Genomics, Providence, Los Angeles, California, USA.
Sandra BrownCenter for Clinical Genetics and Genomics, Providence, Los Angeles, California, USA.
Christine DroganDepartment of Medicine, University of Chicago, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-9927-9739
Giulia Martina CavestroGastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Kelly GordonCenter for Clinical Genetics and Genomics, Providence, Los Angeles, California, USA.
Aparajita SinghDepartment of Medicine, University of California San Francisco, San Francisco, California, USA.
Diane M SimeoneDepartment of Surgery and Pathology, New York University Langone Health, New York, New York, USA.
Hannah ReichDepartment of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Fay KastrinosDivision of Digestive and Liver Diseases, Columbia University Irving Medical Center, New York, New York, USA.
Dana ZakalikNancy and James Grosfeld Cancer Genetics Center, Corewell Health William Beaumont University Hospital, Royal Oak, Michigan, USA.
Heather HampelDepartment of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Rachel PearlmanDepartment of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Ora K GordonCenter for Clinical Genetics and Genomics, Providence, Los Angeles, California, USA.
Sonia S KupferDepartment of Medicine, University of Chicago, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0003-4857-2289
Marta PuzzonoGastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Raffaella Alessia ZuppardoGastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Randall E BrandDepartment of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Funding

Translational Therapeutics Research Program (TT)P30CA016058 · NCI · OHIO STATE UNIVERSITY · PI Tasleem J Padamsee · 1985 to 2026
$132.3M
Using markers to improve pancreatic cancer screening and surveillance: a multi-center studyU01CA210170 · NCI · JOHNS HOPKINS UNIVERSITY · PI Michael G. Goggins · 2016 to 2026
$9.3M
FITting noninvasive testing into Lynch syndrome colorectal cancer surveillance: a multicenter, prospective trialR01CA287257 · NCI · UNIVERSITY OF CHICAGO · PI Fay Kastrinos, Sonia Kupfer · 2024 to 2026
$3.4M
Colonic responses to vitamin D and aspirin in African- and European-AmericansR01CA220329 · NCI · UNIVERSITY OF CHICAGO · PI KUPFER, SONIA · 2018 to 2022
$1.9M
NCI NIH HHS P30 CA016058NCI NIH HHS R01 CA220329NCI NIH HHS R01 CA287257NCI NIH HHS U01 CA210170
6 · The paper itself

Abstract

backgroundPancreatic ductal adenocarcinoma (PDAC) surveillance is recommended for some individuals with a pathogenic or likely pathogenic variant (PV/LPV) in a PDAC susceptibility gene; the recommendation is often dependent on family history of PDAC. This study aimed to describe PDAC family history in individuals with PDAC who underwent genetic testing to determine the appropriateness of including a family history requirement in these recommendations.

methodsIndividuals with PDAC with a germline heterozygous PV/LPV in ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PALB2, or PMS2 (PV/LPV carriers) were assessed for family history of PDAC in first-degree relatives (FDRs) or second-degree relatives (SDRs) from nine institutions. A control group of individuals with PDAC without a germline PV/LPV was also assessed.

resultsThe study included 196 PV/LPV carriers and 1184 controls. In the PV/LPV carriers, 25.5% had an affected FDR and/or SDR compared to 16.9% in the control group (p = .004). PV/LPV carriers were more likely to have an affected FDR compared to the controls (p = .003) but there was no statistical difference when assessing only affected SDRs (p = .344).

conclusionsMost PV/LPV carriers who developed PDAC did not have a close family history of PDAC and would not have met most current professional societies' recommendations for consideration of PDAC surveillance before diagnosis. However, PV/LPV carriers were significantly more likely to have a family history of PDAC, particularly an affected FDR. These findings support family history as a risk modifier in PV/LPV carriers, and highlight the need to identify other risk factors.

Indexed as

Carcinoma, Pancreatic DuctalGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationPancreatic NeoplasmsAdultAgedAged, 80 and overCase-Control StudiesFemaleHeterozygoteHumansMaleMedical History TakingMiddle Agedgenetic testinggermline mutationpancreatic cancerrisk factors

Identifiers

PMID38809542
PMCPMC11371512

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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.