Genetic predisposition to cancer Flashcards

1
Q

What are oncogenes

A

Mutated protoncogenes

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2
Q

What do oncogenes cause

A

Accelerated cell division

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3
Q

What is the result of tumour to tumour suppression genes

A

1st mutation- susceptable carrier accelerated cell division
2nd mutation- leads to cancer

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4
Q

What are the Cancer associated with BRCA-1

A

Breast cancer -50-85%
Second primary breast cancer - 40-60%
Ovarian cancer 15%-45%

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5
Q

Name the 2 types of gene mutations in which cancer arises from?

A

Somatic and Germline mutations

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6
Q

Name the 3 types of genes associated with Cancer?

A

Oncogenes
Tumour suppressor genes
DNA damage-response genes

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7
Q

Location for somatic and germline mutation

A

Somatic occurs in nongermline tissue and are nonheritable
Germlinic mutations are present in egg or sperm and are heritable

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8
Q

Explain the difference between Benign, malignant, Dysplastic

A

Benign - lack ability to metastasize, rarely or never become cancerous but can still cause health effects due to pressure on other organs

Dysplastic - ‘benign’ but could progress to malignancy, cells show abnormalities of appearance and cell maturation

Malignant - Able to metastasize

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9
Q

How does HNPCC (Hereditary non-polyposis coloerectal cancer) occur?

A

Failure of Mismatch repair genes

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10
Q

Nature of oncogene in cancers

A

It is the dominant gene in effect

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11
Q

Nature of the TSG (Tumour Suppressor Gene)

A

Recessive genes in effect

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12
Q

Risk factors of breast cancer (5)

A

Ageing
Family history
Dietary factors
Lack of exercise
Late menopause

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13
Q

Role of mismatch repair (MMR) and where

A

Corrects errors that occur during DNA replication like single base mismatches or short insertions and deletions

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14
Q

TSG normal effect, 1st mutation and 2nd mutation

A

Normal genes prevent cancer
1st mutation gene acts as a susceptible carrier
2nd mutation leads to cancer

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15
Q

What can mutation in proto-oncogene result in

A

Gene transforming into an oncogene which accelerates cell division

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16
Q

What does failure of mismatch repair (MMR) lead to and what are they

A

Microsatelite instability (MSI)
These are regions of repeated DNA that change in length

It is the phenotypic evidence that MMR isn’t working

17
Q

What is Retinoblastoma disease and how can it occur

A

Most common eye tumour in children
Occurs in heritable and nonheritable forms

18
Q

When does cancer occur in relation to TSG and results of this

A

When both genes fail (2 hit hypothesis) which speeds the accumulation of mutations in critical genes

19
Q

Where do De Novo mutations take place

A

Takes place in a germ cell of a parent, the new individual has the new alterations in all of their germ line but isn’t present in the parent

20
Q

2 forms of Hereditary coloerectal cancer syndromes

A

Non polyposis where there is few to no adenomas
Polyposis where there is multiple adenomas