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Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Overview of attention for article published in BMC Medical Genetics, March 2017
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Title
Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
Published in
BMC Medical Genetics, March 2017
DOI 10.1186/s12881-017-0398-3
Pubmed ID
Authors

Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim

Abstract

While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4-6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 19%
Researcher 2 13%
Professor 2 13%
Student > Doctoral Student 1 6%
Student > Ph. D. Student 1 6%
Other 1 6%
Unknown 6 38%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 31%
Medicine and Dentistry 3 19%
Agricultural and Biological Sciences 1 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Unknown 6 38%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 May 2017.
All research outputs
#8,988,542
of 10,263,476 outputs
Outputs from BMC Medical Genetics
#534
of 659 outputs
Outputs of similar age
#221,284
of 262,417 outputs
Outputs of similar age from BMC Medical Genetics
#7
of 10 outputs
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