Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L471insFs
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BRCA1

NM_007294.4:p.L471insFs

Associated Papers

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R

The Epma Journal, 2010

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Mohammadi L et al.

Bmc Cancer, 2009

A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.

Wárlám-Rodenhuis CC et al.

European Journal of Cancer (oxford, England : 1990), 2005

Structural factors determining DNA length limitations in conformation-sensitive mutation detection methods.

Kozlowski P et al.

Electrophoresis, 2005

Founder mutations among the Dutch.

Zeegers MP et al.

European Journal of Human Genetics : Ejhg, 2004

Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up.

Olivier RI et al.

British Journal of Cancer, 2004

Androgen pathway dysregulation in BRCA1-mutated breast tumors.

Berns EM et al.

Breast Cancer Research and Treatment, 2003

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

Piek JM et al.

Familial Cancer, 2003

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

Papelard H et al.

British Journal of Cancer, 2000

BRCA1 gene mutations in sporadic ovarian carcinomas: detection by PCR and reverse allele-specific oligonucleotide hybridization.

Tong D et al.

Clinical Chemistry, 1999

Genetic susceptibility testing and prophylactic oophorectomy.

Berchuck A et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 1999

Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1.

Verhoog LC et al.

Lancet (london, England), 1998

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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."