Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R1495Splc
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BRCA1

NM_007294.4:p.R1495Splc

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S2_SNV.xlsx › s3_BRCA1

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.

Muhammad N et al.

Hereditary Cancer in Clinical Practice, 2023

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 analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

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

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › raw_data

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Buleje J et al.

Molecular Genetics & Genomic Medicine, 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

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable4

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

28051113 (PubMed )
Supplement: srep39348-s1.pdf

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Dodova RI et al.

Bmc Cancer, 2015

BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.

Biunno I et al.

Familial Cancer, 2014

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A et al.

Gynecologic Oncology, 2012

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 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."