Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.F1662_M1663Splc
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BRCA1

NM_007294.4:p.F1662_M1663Splc

Associated Papers

PARPis response and outcome of ovarian cancer patients with BRCA1/2 germline mutation and a history of breast cancer.

Yuan H et al.

Journal of Gynecologic Oncology, 2024

38246184 (PubMed )
Supplement: jgo-35-e51-s001.xls › jgo-35-e51-i003

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

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

Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.

Dong Z et al.

Journal of Human Genetics, 2023

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

Luo Y et al.

International Journal of General Medicine, 2022

A pitfall in targeted Sanger sequencing of BRCA splicing variants in at-risk individuals.

He L et al.

Pathology, Research and Practice, 2021

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-s007.xlsx › CIMBA

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-3.xlsx › Conflicting_interpretations
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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."