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Genetics > 11. Cancer Genetics > Flashcards

11. Cancer Genetics Flashcards

1
Q

cancer

A

a disorder of cell growth
caused by alterations in genes which control cell growth

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2
Q

germline mutations

A

present in sperm or egg
are heritable
cause cancer family syndromes

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3
Q

somatic mutations

A

occur in non germline tissues
are nonheritable

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4
Q

who is at risk to hereditary cancer

A

hereditary cancers account for only a small proportion of all cancer

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5
Q

the cancer family history is the key to:

A

accurate risk assessment
effective genetic counselling
appropriate medical follow-up

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6
Q

when to suspect hereditary cancer syndrome

A
  • cancer in 2 or more close relatives
  • early age diagnosis
  • multiple primary tumours
  • bilateral or multiple rare cancers
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7
Q

incomplete penetrance

A

when you have the gene alteration but never show it (symptoms)

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8
Q

what are the two ways of classifying hereditary cancer

A

by tumour type
by type of gene mutated

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9
Q

what are the two main groups of tumour types

A

rare hereditary cancer syndromes

subset of common cancers which is hereditary, eg. colon cancer, breast cancer, ovarian cancer

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10
Q

what are the three type of genes that can be mutated

A

tumour suppressor genes
oncogenes
DNA damage-response genes

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11
Q

explain tumour suppressor genes

A

they slow down cell growth (like breaks)

cancer arises when both breaks fail

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12
Q

Retinoblastoma

A

tumour that develops in the pigment cells in the back of a childs eye

  • occurs in heritable and nonheritable forms
  • autosomal dominant transmission
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13
Q

non heritable retinoblastoma

A
  • unilateral tumour
  • no family history
  • avg age of diagnosis is 2+
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14
Q

heritable retinoblastoma

A
  • bilateral tumour
  • 20% of cases have family history
  • avg age of diagnosis is less than 1
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15
Q

familial adenomatous polyposis

A
  • autosomal disorder, fully penetrant
  • development of multiple initally benign colonic polyps and if untreated will progress into colon cancer
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16
Q

what is the treatment of familial adenomatous polyposis

A

to remove the colon

17
Q

oncogene

A

accelerate cell division

normal genes regulate cell growth but when there is one mutation it leads to accelerated cell division

18
Q

multiple endocrine neoplasia type 2 (MEN2)

A

inherited disorder of oncogene

19
Q

what are three specific subtypes of the condition

A

thyroid C cell tumors,
parathyroid adenomas,
adrenal medulla tumors

20
Q

common clinical disorder of DNA repair genes

A

common subset of colon cancer
HNPCC is due to defects in DNA mismatch repair

21
Q

clinical features of HNPCC

A

early but variable age at CRC (colorectal cancer) diagnosis
tumour site in proximal colon predominates (majority of the cancer is in the upper part of the colon)

22
Q

MSI - microsatellite instability

A

due to mismatch repair failure

23
Q

what are the benefits of predictive genetic testing

A
  • identifies those who are not at risk
  • saves on screening resources
24
Q

what is the intervention and recommendation for colorectal cancer

A

colonoscopy
begin at age 20-25 and repeat every 1-2 years

25
Q

what is the intervention and recommendation for endometrial cancer

A

transvaginal ultrasound or endometrial aspirate
annually, starting at age 25-35

26
Q

how much breast cancer is hereditary

A

5-10%

27
Q

how much ovarian cancer is hereditary

A

15-20~%

28
Q

what are some features that indicate increased likelihood of having BRCA mutations

A
  • multiple cases of early onset breast cancer
  • ovarian caner
  • breast and ovarian cancer in the same woman
  • bilateral breast cancer
  • ashkenazi jewish heritage
  • male breast cancer
29
Q

BRCA 1

A

tumour suppressor gene on chromosome 17
autosomal dominant transmission

30
Q

what is the lifetime risk of the cancers associated with BRCA1

A

breast cancer 50-85%
second primary breast cancer 40-60%
ovarian cancer 15-45%

31
Q

what is the lifetime risk of the cancers associated with BRCA2

A

breast cancer 50-85%
male breast cancer 6%
ovarian cancer 10-20%

32
Q

what are the benefits of BRCA testing

A
  • identifies high risk individuals
  • identifies noncarriers in families with a known mutation
  • allows early detection and prevention strategies
  • may relieve anxiety
  • may allow targeted chemo
33
Q

risk and limitations of BRCA testing

A
  • does not detect all mutations
  • continued risk of sporadic cancer
  • efficacy of interventions unproven
  • may rest is psychosocial or economic harm
34
Q

surveillance options for breast cancer in healthy BRCA mutation carriers

A

monthly breast self exams (begin age 18)
and
early clinical surveillance (begin age 25)

Genetics (22 decks)

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