Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1386_Q1388delFs
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BRCA1

NM_007294.4:p.S1386_Q1388delFs

Associated Papers

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.

Neumann C et al.

Jco Precision Oncology, 2025

41100774 (PubMed )
Supplement: po-9-e2400951-s001.pdf

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

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

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

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

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM3_ESM.xlsx › PrimaryTumors_forRNAseq

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Borde J et al.

Bmc Cancer, 2022

35761208 (PubMed )
Supplement: 12885_2022_9780_MOESM5_ESM.xlsx › Tabelle1

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 › BRCA1

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

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

Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.

Gupta S et al.

Jco Global Oncology, 2021

Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.

Sim WC et al.

Experimental and Molecular Pathology, 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.

Malhotra H et al.

Jco Global Oncology, 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-s007.xlsx › Asian

Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.

Vocka M et al.

Cancers, 2019

31141992 (PubMed )
Supplement: cancers-11-00738-s001.pdf

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Petridis C et al.

Breast Cancer Research : Bcr, 2019

31060593 (PubMed )
Supplement: 13058_2019_1143_MOESM2_ESM.xlsx › Sheet1

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.

Mehta A et al.

Cancer Management and Research, 2018

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM2_ESM.xlsx › Supplementary_Data_1

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC et al.

European Journal of Human Genetics : Ejhg, 2017

28145423 (PubMed )
Supplement: ejhg2016203x2.xls › Genotype_Phenotype_data

Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Soumittra N et al.

Hereditary Cancer in Clinical Practice, 2009

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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."