Evidence map›Paper›PMID 33837488›Full record

ArticleFamilial cancer2022

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

I Kedar, L Walsh, G Reznick Levi, S Lieberman, A Abu Shtaya, S Naftaly Nathan, I Lagovsky, R Tomashov-Matar, M Goldenberg, L Basel-Salmon and 13 more

Abstract read
PubMed Publisher
In one paragraph

Article in Familial cancer, 2022. 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
0.6field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  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

23 authors at 10 institutions in 3 countries.

I Kedar *The Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
L Walsh *Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA, USA.
G Reznick LeviThe Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
S LiebermanMedical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
A Abu ShtayaDepartment of Internal Medicine, Carmel Medical Center, Haifa, Israel.
S Naftaly NathanThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
I LagovskyThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
R Tomashov-MatarThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
M GoldenbergThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
L Basel-SalmonThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.
L KatzDepartment of Gastroenterology and Hepatology, Hadassah Medical Center, Jerusalem, Israel.
O AlemeGenetics Institute, Emek Medical Center, Afula, Israel.
T Yablonski PeretzSharett Institute of Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
A HubertGastrointestinal Cancer Center, Sharett Institute of Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
D Rothstein, Ramat Hasharon, Israel.
S Castellvi-BelGastroenterology Department, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.
T WalshDepartments of Medicine and Genome Sciences, University of Washington, Seattle, WA, USA.
M C KingDepartments of Medicine and Genome Sciences, University of Washington, Seattle, WA, USA.
C C PritchardDepartment of Laboratory Medicine, University of Washington, Seattle, WA, USA.
Z LeviSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
E HalfDepartment of Gastroenterology, Rambam Health Care Campus, Haifa, Israel.
I LaishSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Y GoldbergThe Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel. yaelgo43@gmail.com.ORCID 0000-0002-9855-9472
Rafael Advanced Defense Systems (Israel) · ILTel Aviv University · ILUniversity of Washington · USHadassah Medical Center · ILRambam Health Care Campus · ILCarmel Medical Center · ILCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESEmek Medical Center · ILOr Yarok Association · ILShaare Zedek Medical Center · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews. The deletion, which encompasses exon 9-10 of the MSH2 coding sequence, is associated mainly with early-onset MSH2/MSH6-deficient colorectal cancer (CRC) and liposarcoma. Testing of 35 members of 5 seemingly unrelated families of Ethiopian origin yielded 10/21 (48%) carriers, of whom 9 had CRC. Age at first tumor diagnosis ranged from 16 to 89 years. Carriers from the oldest generations were diagnosed after age 45 years (mean 57), and carriers from the younger generation were diagnosed before age 45 years (mean 30). Awareness of this founder deletion is important to improve patient diagnosis, institute surveillance from an early age, and refer patients for genetic counseling addressing the risk of bi-allelic constitutional MMR deficiency syndrome.

Indexed as

Colorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisAdolescentAdultAgedAged, 80 and overDNA Mismatch RepairEthiopiaGerm-Line MutationHumansJewsMiddle AgedMutS Homolog 2 ProteinYoung AdultMSH2 protein, humanMutS Homolog 2 ProteinAnticipationDeletionFounder mutationLynch syndromeMSH2

Identifiers

PMID33837488
OpenAlexW3151078027

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.