Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C24insFs
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BRCA1

NM_007294.4:p.C24insFs

Associated Papers

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Latino_only

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Wei CH et al.

Plos One, 2023

37310942 (PubMed )
Supplement: pone.0286998.s001.pdf

Dissection of transcriptome dysregulation and immune characterization in women with germline BRCA1 mutation at single-cell resolution.

Yu X et al.

Bmc Medicine, 2022

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.

Gallardo-Rincón D et al.

Frontiers in Genetics, 2022

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-s006.xlsx › BRCA1_ethnic_source_

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Jara L et al.

Biological Research, 2017

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants

Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

Villarreal-Garza C et al.

Cancer, 2015

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

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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."