Genetics and Cancer

Question 1

BRCA1/2

Answer 1

Breast and Ovarian

Question 2

MLH1, MSH2, MSH6, PMS2

Answer 2

lynch syndrome aka HNPCC COLON, ENDOMETRIAL, STOMACH, OVARIAN - this if FYI info

Question 3

PTEN

Answer 3

breast/endometrial/thyroid

Question 4

p53

Answer 4

breast, brain, sarcoma, leukemia, adrenal cortical cancer

Question 5

APC/MYH

Answer 5

colon, colon polyps

Question 6

CDH1

Answer 6

breast/stomach

Question 7

P16

Answer 7

melanoma/pancreatic

Question 8

4 examples of hereditary breast cancer syndromes

Answer 8

1. Li Fraumeni
2. PTEN hamartoma
3. Peutz Jeghers
4. Hereditary diffuse gastric cancer syndrome
   and more (bloom, familial melanoma, werner, xeroderma pigmentoas)

Question 9

where is BRAC1 located?

Answer 9

chromosome 17

Question 10

where is BRCA2 located?

Answer 10

chromosome 13

Question 11

what is risk for invasive breast cancer in females with BRCA1?

Answer 11

50-80%, up to 60% serous ovarian..

Question 12

risk for invasive breast in females with BRCA2?

Answer 12

40-85%

Question 13

Lynch syndrome also known as…

Answer 13

hereditary nonpolyposis colorectal cancer

Question 14

HNPCC

Answer 14

hereditary nonpolyposis colorectal cancer

Question 15

what cancers does lynch syndrome increase risk for?

Answer 15

colon, endometrial, ovary, stomach, small intestine, biliary tracts, renal, skin cancers

Question 16

what is genetic pattern of lynch syndrome?

Answer 16

autosomal dominant

Question 17

findings of malignant neoplasms:

Answer 17

more rapid growth, higher vascularity, weird functions and if metastasis it is malignant

Question 18

3 key features in benign neoplasm

Answer 18

1. structural differentiation retained
2. organized
3. functional differentiation usually pretty complete

Question 19

3 key features malignant neoplasms

Answer 19

1. structural differentiation to retained
2. disorganized
3. functional differentiation usually very incomplete (less differentiated)

Question 20

nuclear variation in benign and malignant

Answer 20

benign: variation in size and shape is minimal
malignant: variation in size and shape is minimal to marked overall variable

Question 21

benign neoplasms are diploid T or F

Answer 21

true

Question 22

dysplasia is defined

Answer 22

a premalignant condition, including increased cell growth and cellular atypical

Question 23

CIS

Answer 23

in-situ malignancy

Question 24

In situ malignancy def

Answer 24

epithelial neoplasm with features of malignancy but NO invasion through the basement membrane typically considered a significant risk factor for development of invasive cancer