Evidence map›Paper›PMID 37170728›Full record

ArticleJournal of gynecologic oncology2023

Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.

Po-Han Lin, Yun-Wen Tien, Wen-Fang Cheng, Ying-Cheng Chiang, Chien-Huei Wu, Karen Yang, Chiun-Sheng Huang

Open access · diamondAbstract read
In one paragraph

Article in Journal of gynecologic oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 21% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. 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

7 authors at 3 institutions in 2 countries.

Po-Han LinDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0001-6066-398X
Yun-Wen TienDepartment of Surgery, National Taiwan University Hospital and Medical College of the National Taiwan University, Taipei, Taiwan.ORCID 0000-0002-9126-2705
Wen-Fang ChengDepartment of Gynecology and Obstetrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0002-3282-6304
Ying-Cheng ChiangDepartment of Gynecology and Obstetrics, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0002-8958-5222
Chien-Huei WuDepartment of Surgery, National Taiwan University Hospital and Medical College of the National Taiwan University, Taipei, Taiwan.ORCID 0000-0002-6382-1186
Karen YangDepartment of Molecular Biology, Princeton University, Princeton, NJ, USA.ORCID 0000-0003-2688-3609
Chiun-Sheng HuangDepartment of Surgery, National Taiwan University Hospital and Medical College of the National Taiwan University, Taipei, Taiwan. huangcs@ntu.edu.tw.ORCID 0000-0002-6557-211X
National Taiwan University Hospital · TWNational Taiwan University · TWPrinceton University · US

Funding

MOST MOST 104-2314-B-002-106-MY3MOST MOST 106-2314-B-002-114-MY3MOST MOST 109-2314-B-002-047MOST MOST 110-2314-B-002-200-MY2
6 · The paper itself

Abstract

objectiveGenetic high-risk assessment combines hereditary breast, ovarian and pancreatic cancer into one syndrome. However, there is a lack of data for comparing the germline mutational spectrum of the cancer predisposing genes between these three cancers.

methodsPatients who met the criteria of the hereditary breast, ovarian and pancreatic cancer were enrolled and received multi-gene sequencing.

resultsWe enrolled 730 probands: 418 developed breast cancer, 185 had ovarian cancer, and 145 had pancreatic cancer. Out of the 18 patients who had two types of cancer, 16 had breast and ovarian cancer and 2 had breast and pancreatic cancer. A total of 167 (22.9%) patients had 170 mutations. Mutation frequency in breast, ovarian and pancreatic cancer was 22.3%, 33.5% and 17.2%, respectively. The mutation rate was significantly higher in patients with double cancers than those with a single cancer (p<0.001).

conclusionThe mutation spectrum varies across the three cancer types and family histories. Our analysis provides guidance for physicians, counsellors, and counselees on the offer and uptake of genetic counseling.

Indexed as

Breast NeoplasmsOvarian NeoplasmsPancreatic NeoplasmsFemaleGenes, BRCA2Genetic Predisposition to DiseaseHumansMutationATMBRCABreast CancerHereditaryOvarian CancerPancreatic Cancer

Identifiers

PMID37170728
PMCPMC10482589
OpenAlexW4372047237

What OpenQuestion holds

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LicenceCC BY-NC
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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.