Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1290*
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BRCA1

NM_007294.4:p.K1290*

Associated Papers

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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

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

Inherited predisposition to breast cancer among African American women.

Churpek JE et al.

Breast Cancer Research and Treatment, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

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