Lab 11 - Oncogenesis 2

Question 1

Lynch syndrome increases the risk of

Answer 1

Many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer.

Question 2

Mutations in which genes increased the risk of developing Lynch syndrome

Answer 2

MLH1
MSH2
MSH6
PMS2
EPCAM

Question 3

MLH1, MSH2, MSH6 and PMS2 are involved in

Answer 3

Repair of errors that occur in DNA replication

Question 4

Lynch syndrome cancer risk is inherited in an

Answer 4

Autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk.

Question 5

Signs and symptoms of Retinoblastoma

Answer 5

“cat’s eye reflex” or leukocoria

Strabisimus

Question 6

Mutations in which genes are responsible for retinoblastoma

Answer 6

RB1

Question 7

RB1 is which type of gene

Answer 7

Tumor suppressor gene

Question 8

A small percentage of retinoblastomas are caused by

Answer 8

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).

Question 9

Mutations in which genes are responsible for breast cancer

Answer 9

BRCA1

BRCA2

Question 10

BRCA1 and 2 are which type of genes

Answer 10

Tumor suppressor genes

Question 11

Rare genetic syndromes that cause increased risk of breast cancer, their mutations and what type of genes they are

Answer 11

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.

Question 12

Familial Adenomatous Polyposis (FAP) is

Answer 12

An inherited disorder characterized by cancer of the large intestine (colon) and rectum.

Question 13

Which mutation cause FAP and in which gene?

Answer 13

Somatic loss of function mutations in the APC gene

Question 14

APC gene is which type of gene

Answer 14

Tumor suppressor gene

Question 15

Which gene can cause autosomal recessive familial adenomatous polyposis?

Answer 15

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

Question 16

When is FAP inherited in a dominant and recessive?

Answer 16

It depends on which gene.
APC gene - Autosomal dominant pattern
MUTYH gene - Autosomal recessive pattern

Question 17

Hereditary diffuse gastric cancer (HDGC) is

Answer 17

An inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer.

Question 18

HDGC is mutation in which gene, and what is the function of the gene?

Answer 18

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.

Question 19

HDCG inheritance pattern

Answer 19

Autosomal dominant pattern

Question 20

Li-Fraumeni syndrome is

Answer 20

a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

Question 21

Cancers most often associated with Li-Fraumeni syndrome

Answer 21

Breast cancer
Osteosarcoma
Soft tissue carcinomas

Brain tumors
Leukemias
Adrenocortical carcinoma

Question 22

Genes associated with Li-Fraumeni syndrome

Answer 22

CHEK2 and TP53

Question 23

Li-Fraumeni syndrome inheritance pattern

Answer 23

Autosomal dominant pattern

Question 24

Linkage analysis using polymorphic markers can identify

Answer 24

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.