Article

One origin of founder mutations in Japan

2023-05-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Some germline pathogenic variants (PVs) have been observed with high frequency in certain regions and races and are called founder mutations. Founder mutations in <italic>BRCA1/2</italic> genes<italic> </italic>have rarely been reported in Japan. At Kakogawa Central City Hospital, <italic>BRCA2</italic> c.5576_5579del accounted for approximately 70% of PVs detec...

Topics

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

Identifiers and source

Literature Corpus work: 21ee405c-1911-5f78-a42c-91b001789c3c
DOI: 10.21203/rs.3.rs-2899924/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

One origin of founder mutations in JapanDOI 10.21203/rs.3.rs-2899924/v1Read

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

Cancer patterns and recurrent variants in BRCA1 and BRCA2 carriers from a Brazilian oncogenetics cohortSemantic proximity Read

Genetic patterns and clinical associations of BRCA1 and BRCA2 mutations in familial and hereditary breast cancer: a cross-sectional study from Surakarta, Central Java.Semantic proximity Read

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

A spectrum of <i>BRCA1</i> and <i>BRCA2</i> germline deleterious variants in ovarian cancer in RussiaSemantic proximity Read

A Decade of Hereditary Cancer Genetic Testing Results in Asian Indian population: Retrospective StudySemantic proximity Read

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.Semantic proximity Read

Clinical Features of Germline Variations in Breast Cancer Patients Revealed by BRCA1 and BRCA2 Genes Using Next Generation SequencingSemantic proximity Read

Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic VariantsSemantic proximity Read

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

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.Semantic proximity Read

Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican populationSemantic proximity Read