Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1037insFs
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BRCA1

NM_007294.4:p.K1037insFs

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

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L et al.

Hereditary Cancer in Clinical Practice, 2019

Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?

Mitchell R et al.

Plos One, 2018

Identification of a preneoplastic gene expression profile in tubal epithelium of BRCA1 mutation carriers.

Press JZ et al.

Neoplasia (new York, N.y.), 2010

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Kroiss R et al.

Human Mutation, 2005

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.

Piek JM et al.

The Journal of Pathology, 2001

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H et al.

British Journal of Cancer, 2000

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

Ligtenberg MJ et al.

British Journal of Cancer, 1999

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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."