Evidence map›Paper›PMID 39187737›Full record

ArticleInternational journal of clinical oncology2024

Lynch syndrome screening in patients with young-onset extra-colorectal Lynch syndrome-associated cancers.

Atsushi Yamada, Yukari Doi, Sachiko Minamiguchi, Tomohiro Kondo, Tomohiko Sunami, Takahiro Horimatsu, Junzo Hamanishi, Masaki Mandai, Etsuro Hatano, Takashi Kobayashi and 11 more

Abstract read
PubMed Publisher
In one paragraph

Article in International journal of clinical oncology, 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. 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

21 authors.

Atsushi YamadaDepartment of Clinical Oncology, Kyoto University Hospital, 54 Shogoin-kawahara-cho, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan. yatsushi@kuhp.kyoto-u.ac.jp.ORCID http://orcid.org/0000-0003-3694-4153
Yukari DoiDepartment of Diagnostic Pathology, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Sachiko MinamiguchiDepartment of Diagnostic Pathology, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Tomohiro KondoDepartment of Clinical Oncology, Kyoto University Hospital, 54 Shogoin-kawahara-cho, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan.
Tomohiko SunamiDepartment of Clinical Oncology, Kyoto University Hospital, 54 Shogoin-kawahara-cho, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan.
Takahiro HorimatsuDepartment of Clinical Oncology, Kyoto University Hospital, 54 Shogoin-kawahara-cho, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan.
Junzo HamanishiDepartment of Gynecology and Obstetrics, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Masaki MandaiDepartment of Gynecology and Obstetrics, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Etsuro HatanoDivision of Hepato-Biliary-Pancreatic Surgery and Transplantation, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Takashi KobayashiDepartment of Urology, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Shigeo HisamoriDivision of Gastrointestinal Surgery, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Kazutaka ObamaDivision of Gastrointestinal Surgery, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Hiroshi SenoDepartment of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Hironori HagaDepartment of Diagnostic Pathology, Graduate School of Medicine, Kyoto University, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Masako TorishimaClinical Genetics Unit, Kyoto University Hospital, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Hiromi MurakamiClinical Genetics Unit, Kyoto University Hospital, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Takeshi NakajimaClinical Genetics Unit, Kyoto University Hospital, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Takahiro YamadaClinical Genetics Unit, Kyoto University Hospital, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Shinji KosugiClinical Genetics Unit, Kyoto University Hospital, 54 Shogoin-kawara-cho, sakyo-ku, Kyoto, Japan.
Kokichi SuganoDepartment of Genetic Medicine, Kyoundo Hospital, Sasaki Foundation, 1-8 Kandasurugadai, Chiyoda-ku, Tokyo, Japan.
Manabu MutoDepartment of Clinical Oncology, Kyoto University Hospital, 54 Shogoin-kawahara-cho, Sakyo-ku, Kyoto, Kyoto, 606-8507, Japan.

Funding

Japan Agency for Medical Research and Development JP22ck0106554National Cancer Center Research and Development Funds 2023-A-18National Cancer Center Research and Development Funds 31-A-2
6 · The paper itself

Abstract

backgroundLynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in mismatch repair (MMR) genes, which predisposes to various types of cancers showing deficient MMR (dMMR). Identification of LS probands is crucial to reduce cancer-related deaths in affected families. Although universal screening is recommended for colorectal and endometrial cancers, and age-restricted screening is proposed as an alternative, LS screening covering a broader spectrum of cancer types is needed. In the current study, we elucidated the rate of dMMR tumors and evaluated the outcome of LS screening in young-onset extra-colorectal LS-associated cancers.

methodsImmunohistochemistry for MMR proteins were retrospectively performed in a total of 309 tissue samples of endometrial, non-mucinous ovarian, gastric, urothelial, pancreatic, biliary tract, and adrenal cancers in patients < 50 years of age. Clinicopathological information and the results of genetic testing were obtained from medical charts.

resultsThere were 24 dMMR tumors (7.8%) including 18 endometrial, three ovarian, two urothelial, and one gastric cancer. Co-occurrence of colorectal cancer and family history of LS-associated cancers was significantly enriched in patients with dMMR tumors. Among the 16 patients with dMMR tumors who were informed of the immunohistochemistry results, five with endometrial and one with urothelial cancer were diagnosed as LS with positive pathogenic variants in MMR genes.

conclusionsWe report the outcome of immunohistochemistry for MMR proteins performed in multiple types of young-onset extra-colorectal LS-associated cancers. Our study demonstrates the feasibility of a comprehensive LS screening program incorporating young-onset patients with various types of extra-colorectal LS-associated cancers.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairAdultAge of OnsetEarly Detection of CancerFemaleGenetic TestingHumansMaleMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinRetrospective StudiesYoung AdultMLH1 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinDeficient mismatch repairLynch syndromeLynch syndrome-associated cancerScreeningYoung-onset

Identifiers

PMID39187737

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