Lab 11 - Oncogenesis 2 Flashcards
Lynch syndrome increases the risk of
Many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer.
Mutations in which genes increased the risk of developing Lynch syndrome
MLH1 MSH2 MSH6 PMS2 EPCAM
MLH1, MSH2, MSH6 and PMS2 are involved in
Repair of errors that occur in DNA replication
Lynch syndrome cancer risk is inherited in an
Autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk.
Signs and symptoms of Retinoblastoma
“cat’s eye reflex” or leukocoria
Strabisimus
Mutations in which genes are responsible for retinoblastoma
RB1
RB1 is which type of gene
Tumor suppressor gene
A small percentage of retinoblastomas are caused by
Deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).
Mutations in which genes are responsible for breast cancer
BRCA1
BRCA2
BRCA1 and 2 are which type of genes
Tumor suppressor genes
Rare genetic syndromes that cause increased risk of breast cancer, their mutations and what type of genes they are
Cowden syndrome - PTEN gene
Hereditary diffuse gastric cancer - CDH1
Li-Fraumeni syndrome - TP53
Peutz-Jeghers syndrome - STK11
They act as tumor suppressor genes. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor.
Familial Adenomatous Polyposis (FAP) is
An inherited disorder characterized by cancer of the large intestine (colon) and rectum.
Which mutation cause FAP and in which gene?
Somatic loss of function mutations in the APC gene
APC gene is which type of gene
Tumor suppressor gene
Which gene can cause autosomal recessive familial adenomatous polyposis?
MUTYH gene. Mutations in this gene prevent cells from correcting errors that are made when DNA is copied (DNA replication) in preparation for cell division
When is FAP inherited in a dominant and recessive?
It depends on which gene.
APC gene - Autosomal dominant pattern
MUTYH gene - Autosomal recessive pattern
Hereditary diffuse gastric cancer (HDGC) is
An inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer.
HDGC is mutation in which gene, and what is the function of the gene?
CDH1 gene.
The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. E-cadherin helps neighboring cells stick to one another (cell adhesion) to form organized tissues. E-cadherin has many other functions including acting as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
HDCG inheritance pattern
Autosomal dominant pattern
Li-Fraumeni syndrome is
a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
Cancers most often associated with Li-Fraumeni syndrome
Breast cancer
Osteosarcoma
Soft tissue carcinomas
Brain tumors
Leukemias
Adrenocortical carcinoma
Genes associated with Li-Fraumeni syndrome
CHEK2 and TP53
Li-Fraumeni syndrome inheritance pattern
Autosomal dominant pattern
Linkage analysis using polymorphic markers can identify
the chromosomal segment bearing a cancer-causing mutation. This approach has been used to identify mutations that cause inherited forms of breast and colon cancer.
