Article

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

2023-08-31

Abstract excerpt

<title>Abstract</title> <p>Hereditarybreast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of <italic>BRCA1</italic> or <italic>BRCA2</italic> is the most common and well-documented hereditary tumor. Although founder mutations have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Me...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9a8682d6-9aba-5571-a350-650c10a149e9
DOI: 10.21203/rs.3.rs-3305540/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.DOI 10.21203/rs.3.rs-3305540/v1Read

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.Semantic proximity Read

Development of a novel prediction model for carriage of BRCA1/2 pathogenic variant in Japanese patients with breast cancer based on Japanese Organization of Hereditary Breast and Ovarian Cancer registry dataSemantic proximity Read

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndromeSemantic proximity Read

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancerSemantic proximity Read

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.Semantic proximity Read

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.Semantic proximity Read

One origin of founder mutations in JapanSemantic proximity Read

Efficacy of clinical guidelines in identifying all Japanese patients with hereditary breast and ovarian cancerSemantic proximity Read

BRCA testing and Japanese original testing criteria for hereditary breast and ovarian cancer covered by public health insuranceSemantic proximity Read

A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.Semantic proximity Read

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.Semantic proximity Read

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.Semantic proximity Read