It is a human Tumor suppressor gene (to be specific, a caretaker gene), found in all humans; its protein, also called by the synonym Breast cancer type 1 susceptibility protein, is responsible for DNA repair (http://en.wikipedia.org/wiki/BRCA1)
DNA repair 프로세스 특히, NHEJ와 Homologous recombination에 관여하여 DNA double-strand breaks를 고친다. 변이로 잘 못고치면, genome rearrangement (SV)가 늘어나고, Mutational signature 3 패턴의 치환변이가 자주 일어난다.
이 유전자의 결함이 있으면, Breast cancer, Ovarian cancer, Pancreatic cancer의 발생 확률이 높다. (왜 이들 3 기관만 관여된 걸까?)
관련 논문
- Reversion of BRCA1/2 Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer Journal of Clinical Oncology : ctDNA로 확인했더니, 항암치료후 germline 변이가 돌아갔다고. 항암치료로 germline 변이만 죽어서.
Table of Contents
Incoming Links #
Related Drug Classes (DrugClass 0) #
Related Books (Book 1) #
Related Articles (Article 2) #
- BAP1
- DNA repair
- Homologous recombination
- Homologous recombination deficiency
- Mutational signature
- Synthetic lethality
- Triple-negative breast cancer
- 암 맞춤의학과 생물정보학
Related Education Events (EducationEvent 3) #
Related Medical Conditions (MedicalCondition 4) #
Related Medical Scholarly Articles (MedicalScholarlyArticle 5) #
- Biomarkers in triple negative breast cancer: A review
- Breast cancer epigenetics: from DNA methylation to microRNAs
- CDK12 Inhibition Reverses De Novo and Acquired PARP Inhibitor Resistance in BRCA Wild-Type and Mutated Models of Triple-Negative Breast Cancer
- Cancer-specific defects in DNA repair pathways as targets for personalized therapeutic approaches
- Comprehensive molecular portraits of human breast tumours
- Mechanisms underlying mutational signatures in human cancers
- Triple-negative breast cancer: an unmet medical need
Suggested Pages #
- 0.143 PARP
- 0.086 HMEC
- 0.058 CDH1
- 0.056 CDK12
- 0.044 Mutational processes molding the genomes of 21 breast cancers
- 0.041 Cytokeratin
- 0.041 A mutational signature in gastric cancer suggests therapeutic strategies
- 0.026 Predicting cancer-specific vulnerability via data-driven detection of synthetic lethality
- 0.025
- 0.025 Base exision repair
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