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Year 3 - Genetics > Genetics - Predisposition of Cancer > Flashcards

Genetics - Predisposition of Cancer Flashcards

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Biology 101 flashcards
1
Q

Disease-Associated Mutations Alter Protein _______

A

Function

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2
Q

How Much Breast and Ovarian Cancer Is Hereditary?

A
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3
Q

What are the Causes of Hereditary Susceptibility to Colorectal Cancer?

A
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4
Q

Tumors Are ______ Expansions

A

Clonal

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5
Q

Cancer Arises From Gene Mutations:

What are germaline mutations?

A

Inherited from single alteration in egg or sperm

Are heritable

Cause cancer family syndromes

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6
Q

Cancer Arises From Gene Mutations:

What are somatic mutations?

A

Occur in nongermline tissues

Are nonheritable

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7
Q

Germaline or somatic mutations - which is heritable?

A

germaline

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8
Q

what is the cell cycle?

A

An oncocyte is an epithelial cell characterized by an excessive number of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. Oncocytes can be benign or malignant

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9
Q

how much mutation do you need for cancer development?

A

1 mutation sufficient for role in cancer development

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10
Q

what is A and B?

A
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11
Q

Multi-Step Carcinogenesis (eg, Colon Cancer) - what is the process?

A
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12
Q

Faulty DNA _________ ______ is main mechanism for familial cancer

A

Mismatch Repair

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13
Q

what is Lynch Syndrome / Hereditary Non-Polyposis Colon Cancer (HNPCC)?

A
  • Mutation in mismatch repair genes
  • Excess of colorectal, endometrial, urinary tract, ovarian and gastric cancers
  • Adenoma - carcinoma sequence for polyp formation
  • Great opportunity for prevention

most common cause of hereditary colorectal (colon) cancer. People with Lynch syndrome are more likely to get colorectal cancer and other cancers, and at a younger age (before 50)

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14
Q

what are the Clinical Features of HNPCC?

A
  • Early but variable age at CRC diagnosis (~45 years)
  • Tumor site in proximal colon predominates
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15
Q

what are the different cancer risks in Lynch syndrome?

A
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16
Q

BRCA1 and 2 Associated Cancers: What is the Lifetime Risk?

A
17
Q

Autosomal dominant inheritance:

Each child has __% chance of inheriting the mutation

No “_______ generations”

________ transmitted by men and women

A

50

skipped

Equally

18
Q

what is Mendelian Risk?

A
19
Q

When should you Suspect Hereditary Cancer Syndrome?

A
  • Cancer in 2 or more close relatives (on same side of family)
  • Early age at diagnosis
  • Multiple primary tumors
  • Bilateral or multiple rare cancers
  • Characteristic pattern of tumours (e.g. breast and ovary)
  • Evidence of autosomal dominant transmission
20
Q

Who Is at High Risk for Hereditary Cancer? Does it cause a lot of cancers?

A

Hereditary cancers account for only a small proportion of all cancer

21
Q

The Cancer Family History Is the Key to what?

A

Accurate risk assessment

Effective genetic counseling

Appropriate medical follow-up

22
Q

Guidelines for Risk Estimation

A
  • All Scottish genetics centres
  • Similar to UK National Guidelines
  • Recommended use by all doctors
  • Classify as gene carrier, high, medium or low
  • Low is low genetic risk - similar to population average risk
23
Q

what is the cancer genetics process?

A
  • Obtain detailed family history
  • Confirm diagnoses of cancer
  • Risk estimation
  • Counselling
24
Q

Examply of verifying family history

A
25
Q

what happens in a clinical genetic consultation?

A
  • Go through family history
  • Risk estimation
  • Explanation of basis of risk
  • Interventions:
  • increased awareness of symptoms/signs
  • lifestyle - diet, smoking, exercise,
  • Prevention – oestrogen, aspirin use
  • screening
  • prophylactic surgery

•Genetic testing - consider in high risk

26
Q

What are the Breast Cancer Surveillance Options?

A
  • Breast awareness
  • Early clinical surveillance 5 yr <age></age>

<p>- annual or clinical breast exams (who by?)</p>

<p>- mammography - Moderate/high: 2 yrly from 35-40, yrly 40 - 50</p>

<p>- High only 18 monthly (50 - 64)</p>

<p>- MR screening those at highest risk</p>

</age>

27
Q

BRCA1/2 Gene Carriers: What is a Prophylactic Mastectomy? and what is its effects?

A
  • Removes most but not all breast tissue
  • Significantly reduces breast cancer risk in women with a family history
  • Total (simple) mastectomy removes more breast tissue than subcutaneous mastectomy
  • BRCA1 mutation-positive women breast cancer incidence reduced to 5%
28
Q

what is Prophylactic Oophorectomy?

A

Preventing cancer by surgically removing your ovaries

29
Q

what are the effects of Prophylactic Oophorectomy?

A

•Eliminates risk of primary ovarian cancer;
however, peritoneal carcinomatosis may
still occur

  • Laparoscopic oophorectomy reduces postsurgical morbidity
  • Induces surgical menopause but HRT till 50 does not change BRCA risk
  • Risk of subsequent BRCA halved in mutation-positive women
30
Q

Surveillance for CRC:

what intervention and recommendations is there for colorectal cancer and endometrial cancer?

A
31
Q

Genetic testing for Lynch syndrome - how is it done?

A
  • IHC (immunohistochemistry screening) for mismatch repair gene proteins or microsatellite instability testing (MSI) are inexpensive ways of determining if a tumour is Lynch syndrome associated
  • If IHC / MSI high gene screen to determine if a gene is implicated (two somatic hits can mislead otherwise
  • IHC/MSI recommended CRC management useful for treatment too
32
Q

Surveillance Reduces Risk of Colorectal Cancer in HNPCC Families

A
33
Q

what are the bemefits of genetic testing?

A

Identifies highest risk

Identifies non-carriers in families with a known mutation

Allows early detection and prevention strategies

May relieve anxiety

34
Q

what are the risks and limitations of genetic testing?

A

Does not detect all mutations

Continued risk of sporadic cancer

Efficacy of interventions variable

May result in psychosocial or economic harm

35
Q

Who do we need to see?

•Scottish office guidelines for referral

A
36
Q

The future:

  • _______ risk scores to decide on screening in families without a highly penetrant mutation
  • Increasing role of _______ and tumour genetic profile in determining treatment of ______
A

Polygenic

germline

cancer

Year 3 - Genetics (3 decks)

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