Evidence map›Paper›PMID 34983974›Full record

ArticleJournal of human genetics2022

Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan.

Masayuki Sekine, Takayuki Enomoto, Masami Arai, Shiro Yokoyama, Hiroyuki Nomura, Koji Nishino, Takeshi Ikeuchi, Yoko Kuriyama, Seigo Nakamura, Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer

Abstract read
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Article in Journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
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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

10 authors.

Masayuki SekineDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. masa@med.niigata-u.ac.jp.
Takayuki EnomotoDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Masami AraiClinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
Shiro YokoyamaDivision of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, Tokyo, Japan.
Hiroyuki NomuraDepartment of Obstetrics and Gynecology, School of Medicine, Fujita Health University, Aichi, Japan.
Koji NishinoDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Takeshi IkeuchiDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.ORCID http://orcid.org/0000-0001-8828-8085
Yoko KuriyamaCenter for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan.
Seigo NakamuraDivision of Breast Surgical Oncology, Department of Surgery, Showa University School of Medicine, Tokyo, Japan.
Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We previously reported that L63X and Q934X are BRCA1 common founder variants in Japan. So far, there have been no reports of a correlation between such BRCA common variants and the risk of BRCA-related cancers. In this analysis, we investigated the correlation between the risk of ovarian cancer (OC) and BRCA recurrent pathogenic variants. We examined the database of the Japanese organization of hereditary breast and ovarian cancer. The database contained 3517 probands who underwent BRCA genetic testing. Among them, 11.1% (392/3517) had germline BRCA1 pathogenic variant, and 8.3% (293/3517) had BRCA2 pathogenic variant. We calculated the OC prevalence, breast cancer (BC) prevalence, and the ratio of OC to BC within second-degree relatives. The ratio of OC to BC in Q934X family members was significantly higher than that in the overall BRCA1 family members (0.80 vs.0.52: p = 0.038), and the ratio in STOP799 was 0.42, which was relatively lower than the overall BRCA1 value. Both Q934X and STOP799 are located in the ovarian cancer cluster region (OCCR), however there seems to be a difference in the risk of OC. R2318X family members had a significant higher ratio of OC to BC at 0.32 than the overall BRCA2 value of 0.13 (p = 0.012). R2318X is known to be located in the OCCR. This is the first report to investigate the correlation between BRCA recurrent variants and the risk of OC in Japan. The family members of probands with Q934X or R2318X have a higher risk of OC than that with other BRCA variants.

Indexed as

Breast NeoplasmsOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenetic Predisposition to DiseaseGenetic TestingHumansJapanMutationBRCA1 ProteinBRCA2 Protein

Identifiers

PMID34983974

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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.