Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A1248delFs
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BRCA1

NM_007294.4:p.A1248delFs

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L et al.

Breast Cancer Research and Treatment, 2009

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

Hartikainen JM et al.

Clinical Genetics, 2007

Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families.

Eerola H et al.

Breast Cancer Research : Bcr, 2005

BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland.

Ikonen T et al.

Journal of Medical Genetics, 2003

The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.

Bergman A et al.

European Journal of Human Genetics : Ejhg, 2001

Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland.

Eerola H et al.

International Journal of Cancer, 2001

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients.

Sarantaus L et al.

European Journal of Human Genetics : Ejhg, 2001

Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population.

Pääkkönen K et al.

Genetic Epidemiology, 2001

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.

Sarantaus L et al.

European Journal of Human Genetics : Ejhg, 2000

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T et al.

Genomics, 1999

Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.

Vehmanen P et al.

Human Molecular Genetics, 1997

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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."