Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S282_Q284insFs
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BRCA1

NM_007294.4:p.S282_Q284insFs

Associated Papers

Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.

Lara Gutierrez A et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40188947 (PubMed )
Supplement: mmc1.xlsx › LDT

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Kekeeva T et al.

International Journal of Molecular Sciences, 2023

37445679 (PubMed )
Supplement: ijms-24-10497-s001.zip › ijms-2442047-supplementary.xlsx › ____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 › MNS_only

Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.

Stegel V et al.

Cancers, 2022

35326583 (PubMed )
Supplement: cancers-14-01434-s001.zip › cancers-1614158-supplementary.pdf

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G et al.

Cancers, 2021

33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Nguyen-Dumont T et al.

Genetics Research, 2020

32772980 (PubMed )
Supplement: S0016672320000075sup001.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-s006.xlsx › BRCA1_ethnic_source_

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

Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.

Cvelbar M et al.

Radiology and Oncology, 2017

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Cini G et al.

Bmc Medical Genetics, 2016

Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

Krajc M et al.

Clinical Genetics, 2014

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

Novaković S et al.

International Journal of Oncology, 2012

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V et al.

Bmc Medical Genetics, 2011

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

Kroiss R et al.

Human Mutation, 2005

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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."