Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L63*
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BRCA1

NM_007294.4:p.L63*

Associated Papers

Genomic landscape and clinical impact of BRCA1/2 pathogenic variants in metastatic castration-resistant prostate cancer.

Iida K et al.

Npj Precision Oncology, 2026

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

Mariya T et al.

Human Genome Variation, 2026

41565638 (PubMed )
Supplement: 41439_2026_335_MOESM1_ESM.xlsx › SupplementaryTable1

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s3_hyaf181.xlsx › Supplemental_Table_3

Spontaneous and Radiation-induced Mammary and Thyroid Tumorigenesis in LEW and (SD×COP)F1 Brca1 L63X/+ Rats.

Nakamura Y et al.

Anticancer Research, 2025

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S11

BRCA1 Promoter Methylation in Ovarian Cancer: Clinical Relevance and a Novel Diagnostic Approach Using Fragment Analysis.

Tsuchimochi S et al.

Cancer Science, 2025

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › NG2022_n_110_

Susceptibility of Brca1(L63X/+) rat to ovarian reserve dissipation by chemotherapeutic agents to breast cancer.

Kaseki S et al.

Cancer Science, 2025

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.

Shirota H et al.

Cancer Medicine, 2025

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Ohneda K et al.

Journal of Human Genetics, 2025

39825003 (PubMed )
Supplement: 10038_2024_1314_MOESM4_ESM.xlsx › Supplementary_Table_2

Genomic and transcriptomic profiling of pre- and postneoadjuvant chemotherapy triple negative breast cancer tumors.

Nishimura T et al.

Cancer Science, 2024

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

Germline BRCA1-Mutated Synchronous and Metachronous Pancreatic Acinar Cell Carcinoma With Long-Term Survival.

Kubo T et al.

Cancer Reports (hoboken, N.j.), 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.

Liu X et al.

Science Advances, 2024

A case of hereditary breast and ovarian cancer syndrome of initially presented as cancer of unknown primary with lymph node metastases unveiled by genetic analysis.

Yamada J et al.

International Cancer Conference Journal, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.

Corso G et al.

European Journal of Human Genetics : Ejhg, 2023

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

Mazzonetto P et al.

Breast Cancer Research and Treatment, 2023

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

BRCA1 haploinsufficiency impairs iron metabolism to promote chrysotile-induced mesothelioma via ferroptosis resistance.

Luo Y et al.

Cancer Science, 2023

Clinical and genomic features of non-small cell lung cancer occurring in families.

Miyabe S et al.

Thoracic Cancer, 2023

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

Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.

Marchetti C et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2023

Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.

Matsubayashi H et al.

Journal of Human Genetics, 2023

Environmental impact on carcinogenesis under BRCA1 haploinsufficiency.

Toyokuni S et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2023

Clinicopathological and imaging features of ductal carcinoma in situ in BRCA1/2 mutation carriers.

Seki A et al.

Breast Disease, 2023

Clinical utility of comprehensive genomic profiling tests for advanced or metastatic solid tumor in clinical practice.

Ida H et al.

Cancer Science, 2022

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s005.pdf

Brca1L63X /+ rat is a novel model of human BRCA1 deficiency displaying susceptibility to radiation-induced mammary cancer.

Nakamura Y et al.

Cancer Science, 2022

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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."