Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
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BRCA1

NM_007294.4:p.L147_Q148Splc

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-s002.xlsx › BRCA1

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.

Alenezi WM et al.

Genes, 2022

35456503 (PubMed )
Supplement: genes-13-00697-s001.zip › genes-1650796-supplementary.xlsx › Suppl_Table_S2

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S3_VUS__n_287_

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_

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Zayas-Villanueva OA et al.

Bmc Cancer, 2019

31331294 (PubMed )
Supplement: 12885_2019_5950_MOESM1_ESM.xlsx › Healthy

A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.

Diaz-Zabala HJ et al.

Cancers, 2018

30400234 (PubMed )
Supplement: cancers-10-00419-s001.pdf

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I et al.

Experimental and Molecular Pathology, 2017

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A et al.

Bmc Medical Genomics, 2015

25948282 (PubMed )
Supplement: 12920_2015_92_MOESM1_ESM.xlsx › Table_S1

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 0

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