Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A469insFs
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BRCA1

NM_007294.4:p.A469insFs

Associated Papers

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

Arai M et al.

Journal of Human Genetics, 2018

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

Nakamura S et al.

Breast Cancer (tokyo, Japan), 2015

[Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].

Arai M et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2012

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N et al.

Plos Genetics, 2008

18497862 (PubMed )
Supplement: pgen.1000080.s002.xls › Sheet1

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

Sinilnikova OM et al.

Familial Cancer, 2006

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.

Nanda R et al.

Jama, 2005

Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A.

Mote PA et al.

Genes, Chromosomes & Cancer, 2004

MYC is amplified in BRCA1-associated breast cancers.

Grushko TA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL et al.

Human Genetics, 2003

Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study.

Piek JM et al.

Familial Cancer, 2003

Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort.

Herzog JS et al.

Human Mutation, 2002

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H et al.

British Journal of Cancer, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."