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EMs -GId > Week 2 > Flashcards

Week 2 Flashcards

1
Q

complex inherited disorder?

A

Something that has been inherited but is not following mendalians rules

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2
Q

polygenic disease?

A

A disease caused by a number of genes/alleles

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3
Q

multifactorial disease?

A

Disease caused by a number of factors including both enviromental and genetic

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4
Q

What is cluster headache?

A

very sharp headache that is usually only one one side of the brain and last for a few weeks

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5
Q

What is Lambdas s ?

A

The relative risk of someone inheriting a disease that is already in there family in relation to the general population?

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6
Q

Is the risk of inheriting a disease greater for the general population or a person whos sibling has the disease and why? Lambdas s

A

person who has a sibling because of genetic similarities with there sibling

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7
Q

Is blood pressure a mendalian inheritance?

A

No it is affected by a number of factors

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8
Q

Give examples of congenitial malformation

A

cleft lip/palate, congenital hip dislocation, congenital heart defects, neural tube defects, pyloric stenosis, talipes

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9
Q

What can the mother take to reduce the chance of neural tube defects?

A

Take folic acid before the preganancy too 3 months after conception –> reduce chance by 50% too 70%

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10
Q

Give examples of acquired disease of childhood and adult life

A

 asthma, autism, cancer, diabetes mellitus, epilepsy, glaucoma, hypertension, inflammatory bowel disease (Crohn disease), ischaemic heart disease & stroke, bipolar disorder, multiple sclerosis, Parkinson disease, psoriasis, rheumatoid arthritis, schizophrenia

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11
Q

What is the genome wide assoication study?

A

when you get two groups of people one controlled and one test group. You try to make everything identical between the two groups such as age, ethnicity, gender except for one group has the disease. You then compare there genome for the cause of the disease

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12
Q

What is linkeage anaylsis used for?

A

mendalian inheritance

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13
Q

Does SNPs usually cause a disease?

A

No they are usually harmless

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14
Q

What is the common age too get AD?

A

Over 40

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15
Q

What are the common symptoms of AD?

A

Memory loss, brain damage and inability to cope

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16
Q

What is the cause of AD neurologically?

A

shrinkage of brain, tangles of b-amyloid protein in nerve fibres of hippocampus

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17
Q

what is the relative risk of second sibiling having AD ?

A

ls is 3 to 10

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18
Q

What is the genetic cause of early onset AD?

A

is caused by Genetic heterogeneity

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19
Q

Which polymorphism of apo-lipoprotein E has greatest cuase of onest of AD and which gives the best protection

A

APOE 4 while APOE 2 gives the biggest proteciton

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20
Q

Having the APOE4/E4 reduces the onset of AD to when

A

from 84 yrs old too 68

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21
Q

what is the leading causeirreversible central visual dysfunction?

A

AGe related macular degeneration

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22
Q

What are the two most common genetic and enviromental causes of age related macular degeneration ?

A

CFH (1q), ARMS2 (10q) and smoking, light (UV to the eye)

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23
Q

Examples of polygenic disease

A

schizophrenia, type II diabetes, Alzheimers and age-related macular dystrophy

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24
Q

Can one mutation cause cancer?

A

Usually no need a multiple of mutations to cause cancer unless you have already inherited mutated genes

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25
Q

What factors affect the pentrance of someone having cancer?

A

genetic variation and enviromental factors can affect the penetrance of a population

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26
Q

what does a gate keeper cell do?

A

Regulated tumur growth: monitors and controlls cell divison and death. Prevents mutation accumulation

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27
Q

name a gate keeper gene

A

TP53

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28
Q

what does caretakers do?

A

they improve genomic stability

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29
Q

landscape

A

control the surrounding stromal enviroment

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30
Q

what is the supporting cell that has the mutation in certain colonel cancers?

A

stromal cells surrounding the epithelial cells

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31
Q

what are the chances of developing colonal cancer if you have a mutation in a tumor suppresant gene (gate keeper)?

A

95%

32
Q

What are the hances of developing colonal cancer if you have a sporadic mutation?

A

look at powerpoint

33
Q

give examples of tumor suppressor genes

A

 e.g. APC, BRCA1/2, TP53, Rb

BRCA1/2 –> cause of breast cancer

34
Q

what does oncogenes do?

A

regulate cell growth and differentation

35
Q

how does mutation in oncogenes cause mutation?

A

causes a gain in function and activation

36
Q

give example of oncogenes mutation?

A

mutation in the RET gene that cause multiple endocrine neoplasia

37
Q

who hypothesised the two hit theory for cancer?

A

Knudsons

38
Q

how many alleles need to be knocked down in sporadic cancer?

A

two

39
Q

How many alleles need to be knocekd down in inherited cancer?

A

1–> increase the likely hood of having cancer

40
Q

Is inherited cancer dominant or recessive at cellular level?

A

It is recessive. You need both alleles to develop the cancer

41
Q

Is the inherited pathway ( family tree) usually AD or Recessive in terms of inherited cancer?

A

Autosomal dominant because the inheritance is sporadic in the second knock down

42
Q

give example of cancers that are passed down in autosomal recessive pattern

A

MYH associated polyposis, Fanconi anaemia, Ataxia telangiectasia

43
Q

HOw does autosomal recessive pattern of inheriting cancer work?

A

Each of the parents have one copy of the gene and are usually not affected. There is 25% chance the child could be affected

44
Q

What is misense mutation?

A

Misense mutation is when there is a change in base and causes the formation of a different amino acid and can affect what protein is produced

45
Q

what is nonsense mutation?

A

A point mutation causes the change of one base –> cause the protein strand to be cut short

46
Q

how to find familiar cancer gene

A

family studies –> linkage analysis
candiate gene analysis
whole exome sequencing

47
Q

what facotrs you need for to take a family history

A

paternal and maternal side
3 generations
confirmation –> cause of death, date, death certificate, medical records
type of cancer, age of diagnosis

48
Q

Does sporadic cancer usually occur in elderly people or in young people? define the age limit

A

Elderly people >50

49
Q

In sporadic cancer inheritance is it common for number of family members to have the cancer?

A

No it is not passed on

50
Q

What factors make familial cnacer?

A

usually occur before 50, more than 1 member of the family has familar cancer type, occurs in both young and old

51
Q

in children what type of cancer is most common?

A

hematological and brain tumors.

52
Q

what is diagnostic genetic testing?

A

genetic testing is done on someone who has cancer and we are identifying the gene that causes it on their DNA

53
Q

Predictive genetic testing

A

Is to determine if someone has the mutation that makes them prone to having a cancer that is already present by a family member

54
Q

what is Retinoblastoma?

A

childhood occular cancer

55
Q

what is Familial Adenomatous Polyposis FAP?

A

thousands of polyps in the colon

56
Q

what is the risk of having bowl cancer if you have FAP and leave it untreated?

A

up to 100%

57
Q

what mutation causes FAP?

A

mutation in the APC tumor suppressor gene

58
Q

what type of inheritance is Familial adenomatous poylposis?

A

Autosomal dominantly inherited

59
Q

what is the surgical procedure if you have FAP?

A

Prophylactic colectomy –>you need to cut the part of the colon that has the polyps and then attatch the rest of it to the rectum

60
Q

what is Hereditary Non-Polyposis Colorectal Cancer NHPcc?

A

Development of a few polyps not the same as FAP that can lead to bowel cancer –> most common cause 2-3%
Can also lead to other types of cancer such as ovarien endometrial/ovarian/stomach/GU

61
Q

What type of inheritance is NHPcc

A

Autosomal dominant inheritance

62
Q

What is the amsterdam criteria for NHPcc

A

One member diagnosed with colorectal cancer before age 50 years
Two affected generations
Three affected relatives, one of them a first-degree relative of the other two
FAP should be excluded  by histological report
Tumours should be verified by pathologic examination

63
Q

how often should patients wiht NHPcc have colonoscopy for screening and from what age?

A

every 18-24 months and from age 25

64
Q

What do BRCA1/2 do?

A

they are invovled in DNA repair

65
Q

In what community is it common to have the BRCA1/2 mutation?

A

jewish community

66
Q

What is the risk of having breast cancer with BRCA1/2 mutation?

A

80%

67
Q

What are the chances of getting ovarian cancer if you have either BRCA1/2 mutation?

A

40% for BRCA1

10 for BRCA2

68
Q

What other cancers are more common if you have BRCA1/2 mutation?

A

male breast cancer, melonoma and prostate cancer

69
Q

Option of reducing the chance of having breast cancer?

A

mastectomies

70
Q

what mutation causes Li Fraumeni Syndrome?

A

P53 and rare

71
Q

Is Li Fraumeni Syndrome AD or AR?

A

autosomal dominant

72
Q

what is the risk of developing cancer if you have Li Fraumeni Syndrome?

A

50% by 40 and 100% in your lifetime

73
Q

What type of treatment should you not use if you have Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant.?

A

Should not use radiotherapy as it can induce the cancer

74
Q

Why is there no point in doing screening for Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant.?

A

if you are positive there is nothing you can do

75
Q

What is the average onset of Li–Fraumeni syndrome ?

A

during childhood

76
Q

what is Li–Fraumeni syndrome?

A

rare cancer predisposition hereditary disorder

77
Q

what type of curve does normally distributed traits follow

A

Gaussian “bell-shaped curve

EMs -GId (7 decks)

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