Evidence map›Paper›PMID 41826624›Full record

ArticleScientific reports2026

Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.

Mikk Tooming, Kadri Toome, Kadri Rekker, Laura Roht, Piret Laidre, Olga Fjodorova, Hanno Roomere, Ülle Murumets, Ustina Šamarina, Sander Pajusalu and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2026. 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

24 authors.

Mikk ToomingDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. mikk.tooming@kliinikum.ee.
Kadri ToomeDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Kadri RekkerDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Laura RohtDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Piret LaidreDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Olga FjodorovaDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Hanno RoomereDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Ülle MurumetsDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Ustina ŠamarinaDepartment of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Sander PajusaluDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Riina ŽordaniaDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Kristi TaelDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Eve VaidlaDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Elvira KurvinenDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Neeme TõnissonDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Mihkel IlissonDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Peeter PadrikHaematology and Oncology Clinic, Tartu University Hospital, Tartu, Estonia.
Jaak LehtsaarHaematology and Oncology Clinic, Tartu University Hospital, Tartu, Estonia.
Riina KütnerOncology and Haematology Clinic, North Estonian Medical Center, Tallinn, Estonia.
Elen VettusCentre of Oncology, East Tallinn Central Hospital, Tallinn, Estonia.
Helen VaharGynaecology Department, West Tallinn Central Hospital, Tallinn, Estonia.
Pilleriin PeetsChair of Analytical Chemistry, Institute of Chemistry, University of Tartu, Tartu, Estonia.
Katrin ÕunapDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Tiina KahreDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Funding

Estonian Research Competency Council PRG2040Estonian Research Competency Council PSG1027Estonian Research Competency Council PSG774
6 · The paper itself

Abstract

Germline genetic testing (GT) of cancer-associated genes enables the identification of hereditary risk in breast (BC) and ovarian cancer (OC) patients, supporting early diagnosis and personalized treatment strategies. In this study, we analyzed data from 3,537 patients who underwent routine clinical GT in Estonia between 2007–2023, including 2,856 BC and 759 cases of OC. A total of 78 individuals in the study were diagnosed with both BC and OC. The mean age at diagnosis and GT was 50.4 ± 12.0 and 54.0 ± 12.5 years for BC, and 56.1 ± 14.1 and 59.4 ± 13.3 years for OC, respectively. Non-genetic medical specialists ordered most GT (66.1%). GT increased nine-fold over the course of the study period. Altogether, 687 pathogenic/likely pathogenic variants (PV) were identified in 668 individuals (17.4% in BC, 26.0% in OC), with an overall combined PV detection rate of 18.9%. The most frequently mutated genes were BRCA1 (6.9% BC; 16.3% OC), BRCA2 (3.8%; 4.5%), and CHEK2 (3.5%; 1.7%). Two BRCA1 PV, c.5266dup and c.4035del, accounted for 29.1% of all PV detected. In addition to BRCA1/2, we identified 19 non-BRCA cancer susceptibility genes in 243 individuals and 25 novel PV, which demonstrates the importance of multi-gene NGS-based GT in Estonia for identifying hereditary cancer risk.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseOvarian NeoplasmsAdultAgedEstoniaFemaleGenetic TestingGerm-Line MutationHumansMiddle AgedMutationBreast cancerHBOCMolecular genetics of breast and ovarian cancerNGSOvarian cancer

Identifiers

PMID41826624
PMCPMC13106779

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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.