Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V1120delFs
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BRCA1

NM_007294.4:p.V1120delFs

Associated Papers

Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.

Morgan RD et al.

British Journal of Cancer, 2024

39550490 (PubMed )
Supplement: 41416_2024_2874_MOESM10_ESM.xlsx › Supplementary_Table_S2

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 › Asian_MNS_both

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Evans DG et al.

Journal of Medical Genetics, 2022

33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf

Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Ha HI et al.

Journal of Gynecologic Oncology, 2020

33078592 (PubMed )
Supplement: jgo-31-e83-s007.xls › jgo-31-e83-s007

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Yadav S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

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-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

28985766 (PubMed )
Supplement: 40659_2017_139_MOESM1_ESM.xlsx › TABLE_I

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC et al.

European Journal of Human Genetics : Ejhg, 2017

28145423 (PubMed )
Supplement: ejhg2016203x2.xls › Genotype_Phenotype_data

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T et al.

Cancer, 2015

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
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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."