Colorectal cancer
Saturday, 5 March 2022 06:48
What is CRC
Do some people inherit a higher risk of colorectal cancer?
• Yes – twin studies show that 15% to 35% of CRC is heritable
What is FAP
What is Bodmer used genetic linkage in family pedigrees to map the mutation in fap
• Chromosome 5 is commonly deleted in colorectal cancers
• Bodmer used genetic probes in chromosome 5.
• They revealed a mutation that existed only in FAP patients
What is APC gene
• Shortly after the mutated gene on chromosome 5 was cloned and characterised (K
al 1991 Cell)
• The gene was called adenomatous polyposis coli APC
• APC is a very large and complex gene and we now know that it acts as a gatekeepe
pathway.
FAP is inherited in an autosomal dominant way (1 APC mutated
•
What is the function of APC
• When APC is mutated too much β-catenin accumulates
• FAP accounts for <1% of CRC but we now know that APC is mutated in up to 80% o
• It behaves as a classical tumour suppressor
• Studying a rare cancer syndrome uncovered genes mutated in sporadic tumours
APC regulates the activity of the WNT pathway by binding to Beta Ca
scaffold on which the phosphorylation complex (Axin, Gsk3 etc) form
cat for degradation.
•
What's GI stem cells are dependent on WNT signalling
• GI epithelium has evolved the capacity to remove any exhausted cells and repleni
participants.
• Importantly, GI epithelial renewal is powered by resident stem cells, which depen
various cellular and biochemical components.
, Kinzler et al 1991 Science; Groden et
per gene in the WNT signalling
of all colorectal cancers.
atenin and assembling the
ms. Phosphorylation targets B-
ish the epithelium with spritely
nd on the coordinated effort of
Saturday, 5 March 2022 06:48
What is CRC
Do some people inherit a higher risk of colorectal cancer?
• Yes – twin studies show that 15% to 35% of CRC is heritable
What is FAP
What is Bodmer used genetic linkage in family pedigrees to map the mutation in fap
• Chromosome 5 is commonly deleted in colorectal cancers
• Bodmer used genetic probes in chromosome 5.
• They revealed a mutation that existed only in FAP patients
What is APC gene
• Shortly after the mutated gene on chromosome 5 was cloned and characterised (K
al 1991 Cell)
• The gene was called adenomatous polyposis coli APC
• APC is a very large and complex gene and we now know that it acts as a gatekeepe
pathway.
FAP is inherited in an autosomal dominant way (1 APC mutated
•
What is the function of APC
• When APC is mutated too much β-catenin accumulates
• FAP accounts for <1% of CRC but we now know that APC is mutated in up to 80% o
• It behaves as a classical tumour suppressor
• Studying a rare cancer syndrome uncovered genes mutated in sporadic tumours
APC regulates the activity of the WNT pathway by binding to Beta Ca
scaffold on which the phosphorylation complex (Axin, Gsk3 etc) form
cat for degradation.
•
What's GI stem cells are dependent on WNT signalling
• GI epithelium has evolved the capacity to remove any exhausted cells and repleni
participants.
• Importantly, GI epithelial renewal is powered by resident stem cells, which depen
various cellular and biochemical components.
, Kinzler et al 1991 Science; Groden et
per gene in the WNT signalling
of all colorectal cancers.
atenin and assembling the
ms. Phosphorylation targets B-
ish the epithelium with spritely
nd on the coordinated effort of
