Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S198Splc
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BRCA1

NM_007294.4:p.S198Splc

Associated Papers

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.

Oubaddou Y et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.

Vietri MT et al.

Medical Oncology (northwood, London, England), 2021

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT et al.

Genes, 2020

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L et al.

Cancers, 2020

32380732 (PubMed )
Supplement: cancers-12-01158-s001.pdf

Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.

Vietri MT et al.

Clinical Chemistry and Laboratory Medicine, 2013

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M et al.

Plos One, 2013

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009

Lymphoblasts of women with BRCA1 mutations are deficient in cellular repair of 8,5'-Cyclopurine-2'-deoxynucleosides and 8-hydroxy-2'-deoxyguanosine.

Rodriguez H et al.

Biochemistry, 2007

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

Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism.

Scholl T et al.

Journal of Medical Genetics, 1999

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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."