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Block 5 > 5.4 Familial Cancer > Flashcards

5.4 Familial Cancer Flashcards

1
Q

What are the types of mutations that can arise to cause cancer?

A

Acquired - somatic

Inherited - Germline

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2
Q

What are the genes usually involved in cancer?

A

Mutated or activated oncogenes
Loss or mutated tumour suppressor genes
DNA repair genes

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3
Q

How do oncogenes cause cancer?

A

1 mutation which causes accelerated cell division

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4
Q

What is the oncogene over expressed in colon cancer?

A

RAS and C-MYC

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5
Q

What is the oncogene over expressed in hereditary papillary renal cancer?

A

MET

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6
Q

What is the oncogene over expressed in familial melanoma cancer?

A

CDK4

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7
Q

What is the oncogene over expressed in CML cancer?

A

BCL/ABL

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8
Q

What is the two hit hypothesis?

A

1 mutation causes the carrier to be susceptible and the 2nd mutation or loss causes cancer

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9
Q

What type of gene is associated with familial cancer syndrome?

A

Tumour suppressor genes

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10
Q

What are the clinical features suggestive of familial/inherited susceptibility?

A

Occurs at young age
Multiple tumours in single organ or bilateral paired
More than 1 primary
Family history or same type or related type
High rate in family

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11
Q

What is the gene associated with retinoblastoma?

A

RB1 gene on chromosome 13

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12
Q

What are the features of retinoblastoma?

A

Unilateral until 26 months, bilateral 8 months

Familial likely to be bilateral younger

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13
Q

What type of genes are BRCA 1 and 2 and what is their inheritance)

A

Tumour suppressor genes (autosomal dominant)

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14
Q

Where are BRCA 1 and 2 located?

A

1: chromosome 17
2: chromosome 13

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15
Q

How do tumours in BRCA 1 and 2 carriers occur?

A

Need to have inactivation of both alleles, one inactivated as a result of inherited germline mutation and the second is acquired (somatic inactivation)

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16
Q

What are the pathologic features of BRCA 1 and 2 breast cancer?

A

1: triple negative, high grade occurring in young women
2: ER+ and may occur late

17
Q

What are the management options for BRCA carriers?

A

Cancer screening
Prophylactic mastectomy
Prophylactic salpingo-oophrectomy

18
Q

Which gene is associated with increase risk of Male breast cancer?

A

BRCA2

19
Q

What is category 1 gene mutations and give examples

A

Highly penetrant genes with will recognised syndromes

BRCA 1/2, p53, CDH1, STK11, MMR

20
Q

What needs to be considered with genetic screening?

A

Need to give counselling and it is hard to know what to do with category 2/3 results

21
Q

What is TP53 mutation associated with?

A

Li-Fraumeni

22
Q

What is PTEN mutation associated with?

A

Cowden/PTEN hamartoma

23
Q

What is STK11 mutation associated with?

A

Peutz-Jeghers

24
Q

What is MMR gene mutations associated with?

A

Lynch (HNPCC)

25
Q

What is the difference between tumour suppressor genes and DNA repair genes?

A

TSG are directly involved in growth inhibition or differentiation while DNA repair genes are indirectly involved

26
Q

What usually occurs as a result of inactivation of DNA repair genes?

A

Increased rates of mutation in other cellular genes including proto-oncogenes and tumour suppressor genes

27
Q

What are the examples of DNA repair genes?

A

Neucleotide excision repair, mismatch repair and somatic mutational disorders

28
Q

How does Neuleotide excision repair work and what disorder results from muatation?

A

repairs helix-istorting chemical adducts especially UV light

Xeroderma Pigmentosa

29
Q

What results from germline mutations in MMR genes and what are the genes?

A

HNPCC (Lynch syndrome) - typically right sided/proximal colon cancer
MSH2, MLH1, MSH6 (PMS1, PMS2)

30
Q

What other cancers are associated with the MMR germline mutations?

A

Colorectal, Endometrial, Gastric, Ovarian, Biliary tract, Urinary tract, Small bowel, Brain/CNS

31
Q

What are the two (3) most common genes that are lost in HNPCC?

A

MSH2 and MSH6 the most common

MHL1 can also occur in sporadic CRC

Block 5 (35 decks)

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