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Record W2007223991 · doi:10.1002/ijc.11338

Hereditary ovarian cancer in Poland

2003· article· en· W2007223991 on OpenAlexaff
Janusz Menkiszak, Jacek Gronwald, Bohdan Górski, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Małgorzata Foszczyńska‐Kłoda, Olga Haus, Hanna Janiszewska, Magdalena Perkowska, Izabela Brożek, Ewa Grzybowska, Helena Zientek, Stanisław Góźdż, Beata Kozak‐Klonowska, Krzysztof Urbański, R Miturski, Jerzy Kowalczyk, A Płużańska, Stanisław Niepsuj, Jan Koc, Marek Szwiec, Kazimierz Drosik, Andrzej Maćkiewicz, Katarzyna Lamperska, Elwira Stróżyk, Dariusz Godlewski, Małgorzata Stawicka, Bernard Waśko, Marek Bębenek, Andrzej Rozmiarek, I Rzepka-Górska, Steven A. Narod, Jan Lubiński

Bibliographic record

VenueInternational Journal of Cancer · 2003
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsCoalition for Research in Women's HealthUniversity of Toronto
Fundersnot available
KeywordsOvarian cancerFamily historyBRCA mutationBreast cancerCancerMedicineGenetic counselingOncologyMutationFounder effectGynecologyGenetic testingInternal medicineGeneticsGeneBiologyGenotypeHaplotype

Abstract

fetched live from OpenAlex

There is increasing evidence that hereditary factors play a greater role in ovarian cancer than in any of the other common cancers of adulthood. This is attributable, to a large extent, to a high frequency of mutations in the BRCA1 or BRCA2 genes. In Poland, 3 common founder mutations in BRCA1 account for the majority of families with identified BRCA mutations. Our study was conducted in order to estimate the prevalence of any of 3 founder BRCA1 mutations (5382insC, C61G and 4153delA) in 364 unselected women with ovarian cancer, and among 177 women with ovarian cancer and a family history of breast or ovarian cancer. A mutation was identified in 49 out of 364 unselected women with ovarian cancer (13.5%) and in 58 of 177 women with familial ovarian cancer (32.8%). The majority of women with ovarian cancer and a BRCA1 mutation have no family history of breast or ovarian cancer. The high frequency of BRCA1 mutations in Polish women with ovarian cancer supports the recommendation that all Polish women with ovarian cancer should be offered testing for genetic susceptibility, and that counseling services be made available to them and to their relatives. It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.677
Threshold uncertainty score0.555

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.010
GPT teacher head0.318
Teacher spread0.308 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations86
Published2003
Admission routes1
Has abstractyes

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