Important mutations

Question 1

Papillary Thyroid Ca

Answer 1

RET

BRAF

Question 2

Follicular Thyroid Ca

Answer 2

RAS
PAX-8
PPAR-gamma

Question 3

Medullary Thyroid Ca

Answer 3

MEN 2A/2B - RET gene

Question 4

MEN 1

• Inheritance
• Mutation

Answer 4

A.D.

Menin (tumor supressor gene on chrom 11)

Question 5

Microdeletion of methyl-CpG binding protein 2 on X-chromosome

Answer 5

Rett Syndrome

Question 6

Fragile X Syndrome:

• Inheritance
• Mutation

Answer 6

X-linked dominant
Trinucleotide repeat (CGG) of FMR1 gene = methylation = decreased expression

Question 7

Myotonic muscular dystrophy:

• Inheritance
• Mutation

Answer 7

Autosomal dominant

CTG trinucleotide repeat expansion in the DMPK gene

Question 8

Becker’s muscular dystrophy:

• Inheritance
• Mutation
• Age of ppt

Answer 8

X-linked
NON-frameshift deletion in dystrophin gene
Age: Adolescence or early childhood (>5y/o)

Question 9

Duchenne’s muscular dystrophy

• Inheritance
• Mutation
• Age of ppt

Answer 9

X-linked
Framshift or non-sense mutation in dystrophin gene
Age: <5 y/o

Question 10

Cystic Fibrosis

• Inheritance
• Mutation
• Chromosome affected

Answer 10

Autosomal recessive
Defect in CFTR protein - deletion of Phe508
Chromosome 7

Question 11

Achondroplasia

• Inheritance
• Mutation
• Chromosome

Answer 11

Autosomal dominant
Fibroblast growth factor 3 (FGFR3)
Chrom: 4

Question 12

ADPKD

• Inheritance
• Mutation
• Chromosome affected

Answer 12

A.D.
PKD1
Chromosome: 16

Question 13

Familial adenomatous polyposis

• Inheritance
• Mutation
• Chromosome affected

Answer 13

A.D.
APC gene
Chrom: 5q

Question 14

Familial hypercholesterolemia

• Inheritance
• Mutation

Answer 14

A.D.

Defective or absent LDL receptor

Question 15

Osler-Weber Rendu Syndrome

• Other name
• Inheritance
• Mutation

Answer 15

A.D.
Hereditary Hemorrhagic Telangiectasia
Inherited disorder of blood vessels

Question 16

Huntington Disease

• Inheritance
• Mutation
• Chromosome affected

Answer 16

A.D.
Trinucleotide CAG repeat
Chrom: 4

Question 17

Hereditary Spherocytosis

• Inheritance
• Mutation

Answer 17

A.D.

Spectrin or ankyrin defect

Question 18

Li-Fraumeni Syndrome

• Inheritance
• Mutation

Answer 18

A.D.

TP53

Question 19

Marfan Syndrome

• Inheritance
• Mutation
• Chromosome affected

Answer 19

A.D.
FBN1 gene mutation - defective fibrillar
Chrom: 15

Question 20

MEN 2A

• Inheritance
• Mutation

Answer 20

A.D.

RET gene

Question 21

Neurofibromatosis type 1

• Inheritance
• Mutation
• Chromosome affected

Answer 21

A.D.
NF1 gene
Chrom: 17

Question 22

Neurofibromatosis type 2

• Inheritance
• Mutation
• Chromosome affected

Answer 22

A.D.
NF2 gene
Chrom: 22

Question 23

Tuberous sclerosis

• Inheritance
• Mutation

Answer 23

A.D.

TSC2 gene

Question 24

von Hippel-Lindau Syndrome

• Inheritance
• Mutation
• Chromosome affected

Answer 24

A.D.
Deletion of VHL gene
Chrom: 3p

Question 25

Genetic disorder by chromosome: 3

Answer 25

von Hippel-Lindau | Renal cell Ca

Question 26

Genetic disorder by chromosome: 4

Answer 26

Huntington ADPKD Achondroplasia

Question 27

Genetic disorder by chromosome: 5

Answer 27

Cri-du-chat Syndrome (microdeletion 5p) | Familial adenomatous polyposis

Question 28

Genetic disorder by chromosome: 6

Answer 28

Hemochromatosis

Question 29

Genetic disorder by chromosome: 7

Answer 29

``` Williams Syndrome (micro deletion 7q) Cystic Fibrosis ```

Question 30

Genetic disorder by chromosome: 9

Answer 30

Friederich Ataxia

Question 31

Genetic disorder by chromosome: 11

Answer 31

Wilms tumor | ß-globin gene defects (Sickle cell, ß-thalassemia)

Question 32

Genetic disorder by chromosome: 13

Answer 32

Patau Wilson disease Retinoblastoma BRCA 2

Question 33

Genetic disorder by chromosome: 15

Answer 33

Prader-Willi Angelman Marfan

Question 34

Genetic disorder by chromosome: 16

Answer 34

ADPKD | ∂-globin gene defects (∂-thalassemia)

Question 35

Genetic disorder by chromosome: 17

Answer 35

Neurofibromatosis type 1 | BRCA 1

Question 36

Genetic disorder by chromosome: 18

Answer 36

Edward Syndrome

Question 37

Genetic disorder by chromosome: 21

Answer 37

Down Syndrome

Question 38

Genetic disorder by chromosome: 22

Answer 38

Neurofibromatosis type 2 | DiGeorge Syndrome

Question 39

Genetic disorder by chromosome: X

Answer 39

Fragile X X-linked agammaglobulinemia Klinefelter

Question 40

Chromosomes associated to Robertsonian translocation

Answer 40

``` 13 14 15 21 22 ```