Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1818delFs
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BRCA1

NM_007294.4:p.D1818delFs

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

The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer.

Azim HA et al.

Oncology and Therapy, 2023

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

Lavoro A et al.

International Journal of Oncology, 2022

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

34235180 (PubMed )
Supplement: Table2.XLSX › BRCA1

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

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

Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.

Wu H et al.

Gene Therapy, 2017

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

Shanmughapriya S et al.

Oncology, 2013

Defective homologous recombination in human cancers.

Cerbinskaite A et al.

Cancer Treatment Reviews, 2012

Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.

Kuo WH et al.

Journal of Human Genetics, 2012

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection.

Ibrahim SS et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2010

Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers.

Tung N et al.

Breast Cancer Research : Bcr, 2010

21080930 (PubMed )
Supplement: bcr2776-S5.pdf

Founder mutations in BRCA1 and BRCA2 genes.

Ferla R et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007

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

Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore.

Lee AS et al.

Human Mutation, 2003

BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

De Leon Matsuda ML et al.

International Journal of Cancer, 2002

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

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