Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I379delFs
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BRCA1

NM_007294.4:p.I379delFs

Associated Papers

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

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

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

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Kroiss R et al.

Human Mutation, 2005

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Pohlreich P et al.

Breast Cancer Research : Bcr, 2005

[Hereditary predisposition for the development of breast and ovarian carcinoma].

Zikán M et al.

Casopis Lekaru Ceskych, 2004

Detection of the most frequent mutations in BRCA1 gene on polyacrylamide gels containing Spreadex Polymer NAB.

Janatová M et al.

Neoplasma, 2003

Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic.

Pohlreich P et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 0

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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."