I am a Physician Scientist and have a patient that presents with colorectal cancer. I decide to enroll them in your study and do whole genome sequencing on their cells. They have a lot of SNPs across their genome and find a novel SNP that is predicted to end in a premature stop codon of a known member of a DNA repair pathway. You think this is the initiating mutation that resulted in their cancer. For this patient, what DNA repair pathway are they likely deficient in?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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I am a Physician Scientist and have a patient that presents with
colorectal cancer. I decide to enroll them in your study and do whole
genome sequencing on their cells. They have a lot of SNPs across their
genome and find a novel SNP that is predicted to end in a premature
stop codon of a known member of a DNA repair pathway. You think this
is the initiating mutation that resulted in their cancer. For this patient,
what DNA repair pathway are they likely deficient in?
Transcribed Image Text:I am a Physician Scientist and have a patient that presents with colorectal cancer. I decide to enroll them in your study and do whole genome sequencing on their cells. They have a lot of SNPs across their genome and find a novel SNP that is predicted to end in a premature stop codon of a known member of a DNA repair pathway. You think this is the initiating mutation that resulted in their cancer. For this patient, what DNA repair pathway are they likely deficient in?
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