Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S403delFs
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BRCA1

NM_007294.4:p.S403delFs

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

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

Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2022

High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.

Zhu L et al.

Breast Cancer (tokyo, Japan), 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

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Cao WM et al.

Bmc Cancer, 2019

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

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