Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S451*
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BRCA1

NM_007294.4:p.S451*

Associated Papers

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-s002.xlsx › BRCA1

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

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

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

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

Genetics of breast cancer in African populations: a literature review.

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

Lang GT et al.

International Journal of Cancer, 2017

BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

Shi T et al.

International Journal of Cancer, 2017

Recent Progress in Triple Negative Breast Cancer Research.

Mouh FZ et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

Francies FZ et al.

Bmc Cancer, 2015

DNA damage and breast cancer.

Davis JD et al.

World Journal of Clinical Oncology, 2011

Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer.

Gonzalez-Angulo AM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N et al.

Plos Genetics, 2008

18497862 (PubMed )
Supplement: pgen.1000080.s002.xls › Sheet1

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

Reeves MD et al.

International Journal of Cancer, 2004

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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."