Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1040delFs
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BRCA1

NM_007294.4:p.S1040delFs

Associated Papers

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.

John EM et al.

Jama, 2007

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA et al.

Journal of the National Cancer Institute, 2006

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 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

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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."