Rare Adult Cancers

Question 1

True or false: All of the rare cancers are hereditary.

Answer 1

True

Question 2

Most of the mutations for rare cancers are ____________ ______________.

Answer 2

Autosomal recessive

Question 3

Rare bone and skin cancer caused by mutation in RECQL4.

Answer 3

Rothmund-Thomson

Question 4

Which population is most affected by Bloom Syndrome? What cancers are they prone to get?

Answer 4

Ashkenazi Jews; solid tumors

Question 5

What mutation is present in Bloom Syndrome?

Answer 5

BLM mutations

Question 6

What mutation is present in Rothmund-Thomson?

Answer 6

RECQL4 mutation

Question 7

Which condition is more prevalent in Japan than in the U.S.? What type of cancers are associated with it?

Answer 7

Werner’s; Progeria and multiple rare cancers

Question 8

Which mutation is involved in Werner’s?

Answer 8

WRN gene mutation

Question 9

Which mutation is associated with Ataxia Telangiectasia?

Answer 9

ATM gene mutation

Question 10

Blood vessels popping

Answer 10

telangiectasia

Question 11

Which condition is associated with small head and slow-growth rate? What type of cancers are associated with it?

Answer 11

Nijmegan Breakage; Non-Hodgkin Lymphoma

Question 12

Which gene mutation is involved in Nijmegen Breakage?

Answer 12

NBN gene mutaitons

Question 13

Which condition is associated with an ATM mutation and chronic infections/leukemias?

Answer 13

Ataxia telangiectasia

Question 14

Which condition is associated with dry skin and frecking and usually results in skin cancer by age 10?

Answer 14

Xeroderma pigmentosum

Question 15

Which gene is associated with Xeroderma pigmentosum?

Answer 15

XPC/ERCC2 or POLH gene mutations

Question 16

Which condition is associated with short stature, premature aging, and ERCC6 and ERCC8 mutations?

Answer 16

Cockayne

Question 17

What genes are associated with Cockayne syndrome?

Answer 17

ERCC6 and ERCC8

Question 18

Which condition is associated with skin fragility, chromosome 20 mutations and FERMT1 gene?

Answer 18

Kindler

Question 19

Which gene mutations are associated with Kindler?

Answer 19

Chromosome 20 mutations and FERMT1 gene

Question 20

What are the risk factors for Ewings Sarcoma?

Answer 20

1) Between ages of 10 and 20 y/o

2) White

Question 21

Which rare bone cancer is primarily in white children between ages 10 and 20 and has a 70% cure rate?

Answer 21

Ewings Sarcoma

Question 22

What is the cure rate for Ewing’s sarcoma?

Answer 22

70%

Question 23

True or false: Ewing’s sarcoma is inherited.

Answer 23

False; it is spontaneous.

Question 24

Which condition is characterized by abnormal nails, skin coloring, white patches in the mouth, anemia, leukemia, and pulmonary fibrosis?

Answer 24

Dyskeratosis congenita

Question 25

Which gene mutations are involved in dyskeratosis congentita?

Answer 25

Either TERT/TERC or DKC1