Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T488insFs
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BRCA1

NM_007294.4:p.T488insFs

Associated Papers

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Nacer DF et al.

Genome Medicine, 2023

37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7

BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation.

De Paolis E et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2022

The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.

Oliverio A et al.

Frontiers in Genetics, 2022

35356420 (PubMed )
Supplement: Table1.XLSX › Foglio1

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

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 › Total_BRCA1___BRCA2

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Nicolussi A et al.

Peerj, 2019

BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.

Marchetti C et al.

Annals of Surgical Oncology, 2018

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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."