Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1162fs
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BRCA1

NM_007294.4:p.D1162fs

Associated Papers

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-s006.xlsx › BRCA1

Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.

Pallonen TA et al.

Scientific Reports, 2022

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

Nurmi A et al.

International Journal of Cancer, 2019

30927251 (PubMed )
Supplement: IJC-145-2692-s001.pdf

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K et al.

Jama Network Open, 2018

30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S et al.

American Journal of Human Genetics, 2018

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.

Hahnen E et al.

Jama Oncology, 2017

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C et al.

Archives of Gynecology and Obstetrics, 2017

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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."