Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1179K
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BRCA1

NM_007294.4:p.K1179K

Associated Papers

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

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A et al.

Gynecologic Oncology, 2012

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

Soegaard M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV et al.

Journal of Medical Genetics, 2006

BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants.

Elstrodt F et al.

Cancer Research, 2006

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

Infante M et al.

Journal of Human Genetics, 2006

BRCA1 variants in a family study of African-American and Latina women.

McKean-Cowdin R et al.

Human Genetics, 2005

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

The mutation spectrum in Holt-Oram syndrome.

Cross SJ et al.

Journal of Medical Genetics, 2000

[BRCA1 gene mutations in early-onset breast cancer].

Ding X et al.

Zhonghua Yi Xue Za Zhi, 2000

Mutation analysis of BRCA1 gene in African-American patients with breast cancer.

Shen D et al.

Journal of the National Medical Association, 2000

BRCA1 mutation update and analysis.

Grade K et al.

Journal of Cancer Research and Clinical Oncology, 1996

Missense alterations of BRCA1 gene detected in diverse cancer patients.

Shen D et al.

Anticancer Research, 0

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