Regional Differences in the Frequency of <scp><i>BRCA1</i></scp> and <scp><i>BRCA2</i></scp> Variants in Northeastern Japan: A Cohort Study

These results highlight the importance of considering regional differences in comparative cohort studies, particularly in assessing the differential extension of mutations in pathogenic changes and VUS. Moreover, a presumption of pathogenicity variants would need to be discussed at the regional level.

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Publication Details

Journal
Cancer Medicine
Published
2025-04-01
DOI
https://doi.org/10.1002/cam4.70443
Citations
2
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
3.63
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article

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study

Chikashi Ishioka, Muneaki Shimada, Tetsuya Niihori, Maako Kawamura et al.
2 citations
Cancer Medicine
BRCA gene mutations in cancer
3.63
article

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study

Chikashi Ishioka, Muneaki Shimada, Tetsuya Niihori, Maako Kawamura, Tomoyuki Iwasaki, Toru Furukawa, Eisaku Miyauchi, K Saito, Shuhei Suzuki, Keigo Komine, Hidetaka Niizuma, Naoki Kawamorita, Ken Saijo, Masanobu Takahashi, Jun Yasuda, Masayuki Kanamori, Hidekazu Shirota, Yoko Aoki, Gen Tamiya, Akimitsu Miyake, Yuki Kasahara, Hiroshi Tada, Motonobu Saito, Takeshi Iwaya, Hiroo Imai, Hiroyuki Shibata
article en
2 citations

Abstract

These results highlight the importance of considering regional differences in comparative cohort studies, particularly in assessing the differential extension of mutations in pathogenic changes and VUS. Moreover, a presumption of pathogenicity variants would need to be discussed at the regional level.

Cancer MedicineVol. 14(8)
Yamagata University (JP), Fukushima Medical University (JP), Hirosaki University (JP), Iwate Medical University (JP), Tohoku University (JP), Akita University (JP), Tohoku University Hospital (JP), Miyagi Prefectural Hospital Organization (JP), Tohoku Medical Megabank Organization (JP)
Good health and well-being
Openalex Percentile: Top 8%
BRCA gene mutations in cancer
3.63
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