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CANCER > SNP 101 > Flashcards

SNP 101 Flashcards

1
Q

What does SNP stand for?

A

Single Nucleotide Polymorphism

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2
Q

What is a SNP?

A

a variation of one nucleotide at a single position in a DNA sequence that occurs in >1% of the population

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3
Q

What is Myriad’s Variant Classification (Polymorphism) 5 catergories?

A 
Polymorphism
Favorable Polymorphism
Variant of Uncertain Significance (VUS)
Suspected Deleterious
Deleterious
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4
Q

Are all Polymorphisms benign

A

NO (FALSE)

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5
Q

What is the most common genetic variation?

A

SNP

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6
Q

SNP account for what % of genetic variations?

A

90%

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7
Q

A SNP is a variation of one nucleotide at a single position in the DNA sequence that occurs in greater than __% of a certain population?

A

1%

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8
Q

SNPs are generally associative of a disease, not causative. TRUE or FALSE?

A

TRUE

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9
Q

A SNP association found in a specific population can be generalized to all populations. TRUE or FALSE

A

FALSE

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10
Q

SNPs can be associated with an increased or decreased risk of developing a certain disease. TRUE or FALSE?

A

TRUE

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11
Q

The Mavaddat study. 77 breast cancer associated SNPs were evaluated to construct a scoring system referred to as the?

A

Polygenic Risk Score (PRS)

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12
Q

The findings from the Mavaddat study showed that the use of SNP analysis to generate a Polygenic Risk SCore could help stratify breast cancer risk only in patients with a family history of breast cancer. TRUE or FALSE

A

FALSE

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13
Q

What is Myriad’s lifetime commitment?

A

Myriad has a lifetime commitment to variant classification and curation. Myriad is dedicated to providing patients and providers with clinically actionable results.

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14
Q

What study looked at frequency of Variant reclassification and types of variants reclassified?

A

Mersch, JAMA 2018

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15
Q

What study assessed the value of combining the effect of 77 individual SNPs for personalized risk stratification in women to guide preventive and screening strategies for Breast Cancer

A

Mavaddat, Journal of National Cancer Institute, 2015

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16
Q

What are the 5 distinct classifications for genetic variants? Mersch JAMA 2015

A 
Benign (Polymorphism)
Likely Benign (Favor Polymorphism)
Variant of Uncertain Significance (VUS)
Likely Pathogenic (Suspected Deleterious)
Pathogenic (Deleterious)
17
Q

In the Mersch study, What was the rate of reclassification from VUS to pathogenic/likely pathogenic? downgraded to Pathogenic/L pathogenic?

A
  1. 7%

91. 2%

18
Q

What is the conclusion of the Mersch study?

A

The rate of Variant reclassification may be LAB-DEPENDENT

CANCER (5 decks)

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