Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1424*
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BRCA1

NM_007294.4:p.Q1424*

Associated Papers

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

Combining rare and common genetic variants improves population risk stratification for breast cancer.

Bolze A et al.

Genetics in Medicine Open, 2024

39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Kekeeva T et al.

International Journal of Molecular Sciences, 2023

37445679 (PubMed )
Supplement: ijms-24-10497-s001.zip › ijms-2442047-supplementary.xlsx › ____1

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-s005.xlsx › Chinese

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

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

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-s004.xlsx › BRCA1

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

BRCA1/2 and clinical outcome in a monoinstitutional cohort of women with hereditary breast cancer.

Sambiasi D et al.

Oncology Reports, 2014

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

Weghofer A et al.

Plos One, 2012

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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."