Breast cancer genetics Flashcards

1
Q

What are features suggestive of a hereditary breast cancer?

A

Unusually early onset of a cancer (depending on the type of cancer)
Multiple primaries
Clustering of same type of cancer or related cancers in close relatives
Cancers in multiple generations in a family
Tumour histology/pathology
Different types of cancer or unusual cancers seen in rare cancer syndromes
Founder mutations

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2
Q

What genes if affected are most likely to lead to cause of breast cancer?

A

BRCA1/2 genes most common

Mainly associated with an increased risk of breast, ovarian, prostate cancer.

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3
Q

What is the Manchester scoring system?

A

The Manchester Scoring System (MSS) is a model system for predicting the chance of finding a BRCA1 or BRCA2 mutation in an individual affected by cancer.

A score of 15 or higher corresponds to a ≥ 10% chance of a pathogenic BRCA1/2 mutation.

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4
Q

Advantages of breast cancer panel testing?

A

Increased yield of genetic diagnoses

Clinical overlap of syndromes

Limitations of family history

Identification of people that need increased screening

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5
Q

Disadvantages of breast cancer panel testing?

A

Difficult to establish the screening in moderate penetrance carriers

Increased number of VUS (variants of uncertain significance)

Understanding multiple positive findings

Incidental findings

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6
Q

Risk management for moderate risk breast cancer?

A

Annual mammograms from 40 till 50 (can be 35)

National Breast Screening Programme from 50 till 70. Can continue at own request

Education and encouragement to be breast aware

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7
Q

Risk management for high risk breast cancer?

A

Biennial (every 2 years) mammograms from *35 – 39
Annual mammograms from 40 – 59
18 monthly mammograms from 60 – 70
Discussion of prophylactic chemoprevention

  • Screening starts at 35 or 5 years earlier than the youngest age of onset in the family (but not before 30 years)
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8
Q

Risk management for very high risk breast, ovarian and prostate cancer?

A

Breast cancer
- Extra breast screening with annual mammograms from 30 till 70 and annual breast MRI from 30 till 50
- Double mastectomy with/without reconstruction

Ovarian cancer
- No effective screening at the moment
- Bilateral Salpingo-Oopherectomy (BSO) around the age of 40
- PROTECTOR study

Prostate cancer
- No routine screening at the moment
- GPs may agree to annual PSA and clinical examination

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9
Q

What is a vacuum assisted breast biopsy?

A

Vacuum‑assisted breast biopsy (VABB; also known as vacuum‑assisted core biopsy or VACB) combines needle biopsy with vacuum suction to collect multiple biopsy samples.

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10
Q

What is tomosynthesis and some of it’s advantages?

A

Tomosynthesis is an advanced type of mammography that uses 3-dimensional imaging to look for breast cancers.

Images taken at different angles in an arc
Reconstruction into multiple slices
- Removes overlap
- Shows margins better

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11
Q

What are some of the indications for tomosynthesis?

A

Assessment of mammographic abnormalities

Screening: may increase sensitivity in denser breasts (not v. dense)
Limited evidence in monitoring or follow-up

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12
Q

BRCA1 mutation features?

A

Poorly differentiated
Triple-negative
More rapid growth than sporadic cancer
Fibroadenoma-like appearance

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