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Flashcards in Cancer genetics Deck (16)
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1
Q

Dominant inheritance

A

HuntinGoons
Mar fan
Hereditary breast and ovarian cancer

2
Q

Factors suggesting inherited predisposition

A

Common cancer at unusually young age
Uncommon cancer in 2 close relatives
Multiple primary tumours
Associated abnormalities

3
Q

How many mutations needed to have sporadic cancer

A

On both alleles

4
Q

How many mutations needed to have inherited cancer

A

1 as the other allele is already mutated

5
Q

What % of cancer is hereditary and caused by by inherited gene

A

5-10

6
Q

What % of people with cancer have a family history

A

20

7
Q

In hereditary cancer it’s important to

A

Detect disease at early curative stage
Identify those at increased risk of cancer
Offer targeted surveillance and treatment

8
Q

BRCA1 associated cancer risk

A

Breast cancer 70% (often early age at onset)

Second primary breast cancer 65%

Ovarian cancer 45%

Increase chance of prostate cancer in men

9
Q

BRCA2 lifetime risk

A

Female breast cancer same as brca1
Contractural breast 65%

Ovarian cancer 20%

Male breast cancer- inc risk of prostate and pancreatic cancer

10
Q

Breast cancer gene panel

A
BRCA1
BRCA2
Palb2
Chek2del 1100c
Tp53 under 30s
11
Q

Signs of colon pre cancer

A

Neoplasticism polyps (high risk)

12
Q

Lynch syndrome is due to

A

Break in mismatch repair genes

MLH1,MSH2,MSH6,PMS2

13
Q

Risk assessment based on

A

The condition : pattern of inheritance, penetrate

The patient: presentation, family history

Guidance: NICE guidelines, multidisciplinary teams

14
Q

High risk/ inherited

A

Managed by genetic testing

15
Q

Moderate risk (familial) manger by

A

Secondary care/screening)

16
Q

Near population risk(sporadic) managed by

A

Primary care