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Summary List of genes and syndroms mechanisms of disease 2
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A list of all hereditary syndromes (and matching genes) discussed in mechanisms of disease 2.
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List of genes and associated syndromesTP53 (TSG): Responsible for cell cycle arrest, senescence and apoptosis. It’s mutated in
>50% of all human tumors and P53-related pathways are affected in >90% of tumors.
Hereditary mutation in TP53: Li Fraumeni syndrome, which causes all different kinds
of tumors (dominant).
APC (TSG): It degradates ß-catenin, which is responsible for cell proliferation. It’s a main
TSG in colorectal cancer.
Hereditary mutation in APC: familial adenomatous polyposis (FAP). It causes
colorectal cancer that can be recognised by the extreme amount of polyps
(dominant).
EGFR (onco): EGFR is a receptor tyrosine kinase. Mutations in EGFR result in a
‘constant ON-switch’ → cell proliferation, cell survival, metastasis and
angiogenesis.
KRAS/BRAF (onco): these genes play a role in cell growth and proliferation. Both
are part of the receptor tyrosine kinase pathways. BRAF → more downstream
than KRAS. Mutations in KRAS prevent the removal of GTP by GAP. This results in
KRAS staying active and abnormal cell proliferation. Mutations in BRAF have the
same effect.
BRCA1/2 (TSG): About 10 percent of all breast cancer cases carry defects in BRCA genes
(half due to germline mutations). BRCA is responsible for homologous recombination.
Mutations in BRCA1/2 predispose for the development of breast cancer.
MLH1/MSH2/MSH6/PMS2 (TSG): All these genes play a role in mismatch repair. MLH1 and
PMS2 are attached to each other, just like MSH2 and MSH6. This means that when one
gene in a pair is missing as the result of a mutation, the other will be removed.
Mutations in one of these genes predisposes for Lynch Syndrome. It
causes colorectal and endometrial cancer. Cancer from Lynch syndrome
can be recognised by invasion of lymphocytes → mutation in MMR leads to
a lot of mutations → recognised by the immune system (dominant).
MUTYH (TSG): Mutations in MUTYH can result in MUTYH-associated polyposis which can
be recognised by colorectal cancer with a lot of polyps (recessive).
POLE/POLD1 (TSG): Mutations in these genes might lead to polymerase proofreading-
associated polyposis, which is a type of hereditary colorectal cancer (dominant).
CHEK2 (TSG): Lifetime risk for breast cancer depends on family history → varies
between 20-55%. Often seen in families with CHEK2 mutation: a lot of breast
cancer, but not everyone is affected with the mutation.
MYC (onco): MYC gene amplification leads to activation of this oncogene.
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