Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
Back to variants list

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

Characterizing cyclin-dependent kinase 12(CDK12)-altered aggressive prostate cancer: a twelve-case series.

Iwasawa T et al.

International Journal of Clinical Oncology, 2022

36271301 (PubMed )
Supplement: 10147_2022_2248_MOESM2_ESM.xlsx › Sheet1

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

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L et al.

Cancers, 2020

32380732 (PubMed )
Supplement: cancers-12-01158-s001.pdf

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_

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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."