Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T1249insFs
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BRCA1

NM_007294.4:p.T1249insFs

Associated Papers

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1

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

BRCA and Breast Cancer-Related High-Penetrance Genes.

Han SA et al.

Advances in Experimental Medicine and Biology, 2021

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants

Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations.

Choi MC et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2015

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

The korean hereditary breast cancer study: review and future perspectives.

Kang E et al.

Journal of Breast Cancer, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Accuracy of BRCA1/2 mutation prediction models in Korean breast cancer patients.

Kang E et al.

Breast Cancer Research and Treatment, 2012

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.

Son BH et al.

Breast Cancer Research and Treatment, 2012

Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients.

Noh JM et al.

Breast Cancer Research and Treatment, 2012

Family history, BRCA mutations and breast cancer in Vietnamese women.

Ginsburg OM et al.

Clinical Genetics, 2011

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

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Seong MW et al.

Clinical Genetics, 2009

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

Ahn SH et al.

Cancer Letters, 2007

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

Han SH et al.

Clinical Genetics, 2006

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY et al.

Biochemical and Biophysical Research Communications, 2006

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

Peixoto A et al.

Familial Cancer, 2006

Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma.

Kim YT et al.

Gynecologic Oncology, 2005

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