Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1778Splc
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BRCA1

NM_007294.4:p.D1778Splc

Associated Papers

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

Makhetha M et al.

Journal of Genetic Counseling, 2024

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

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

BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study.

Rioki JN et al.

The Pan African Medical Journal, 2023

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

Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.

Van der Merwe NC et al.

Frontiers in Genetics, 2022

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

Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.

Yang C et al.

Breast Cancer Research and Treatment, 2018

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s001.pdf

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Pan M et al.

Human Mutation, 2011

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