Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S157delFs
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BRCA1

NM_007294.4:p.S157delFs

Associated Papers

Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.

Samigatova A et al.

Scientific Reports, 2026

Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.

Ribeiro AAF et al.

Scientific Reports, 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

Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.

Peng Y et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2025

Insights into disease resilience and longevity: Hints from COVID-19 recovered nonagenarians and centenarians.

de Castro MV et al.

Gene, 2025

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Helbling-Leclerc A et al.

International Journal of Molecular Sciences, 2024

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

Pitiot AS et al.

Clinical Genetics, 2024

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

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

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Pramanik R et al.

Ecancermedicalscience, 2024

Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.

Lin PH et al.

Journal of Gynecologic Oncology, 2023

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

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

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

Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.

Carvalho CM et al.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2023

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_

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

Zhang Y et al.

Bmc Cancer, 2022

Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Felix GES et al.

Breast Cancer Research and Treatment, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

Molina-Zayas M et al.

Molecular Genetics and Genomics : Mgg, 2022

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

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

Kharel S et al.

The Journal of International Medical Research, 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

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Increased gene expression variability in BRCA1-associated and basal-like breast tumours.

Wiggins GAR et al.

Breast Cancer Research and Treatment, 2021

34287743 (PubMed )
Supplement: 10549_2021_6328_MOESM3_ESM.xlsx › Sheet1

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Chandrasekaran D et al.

Cancers, 2021

34503154 (PubMed )
Supplement: cancers-13-04344-s001.zip › cancers-1312764-supplementary.pdf

Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report.

Silva PGB et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2021

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Solano AR et al.

Cancers, 2021

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S4

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

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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."