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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 (

DNA repair 프로세스 특히, NHEJHomologous 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?)

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