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Flashcards in Genetics and Cancer Deck (24)
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1

BRCA1/2

Breast and Ovarian

2

MLH1, MSH2, MSH6, PMS2

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

3

PTEN

breast/endometrial/thyroid

4

p53

breast, brain, sarcoma, leukemia, adrenal cortical cancer

5

APC/MYH

colon, colon polyps

6

CDH1

breast/stomach

7

P16

melanoma/pancreatic

8

4 examples of hereditary breast cancer syndromes

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

9

where is BRAC1 located?

chromosome 17

10

where is BRCA2 located?

chromosome 13

11

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

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

12

risk for invasive breast in females with BRCA2?

40-85%

13

Lynch syndrome also known as...

hereditary nonpolyposis colorectal cancer

14

HNPCC

hereditary nonpolyposis colorectal cancer

15

what cancers does lynch syndrome increase risk for?

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

16

what is genetic pattern of lynch syndrome?

autosomal dominant

17

findings of malignant neoplasms:

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

18

3 key features in benign neoplasm

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

19

3 key features malignant neoplasms

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

20

nuclear variation in benign and malignant

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

21

benign neoplasms are diploid T or F

true

22

dysplasia is defined

a premalignant condition, including increased cell growth and cellular atypical

23

CIS

in-situ malignancy

24

In situ malignancy def

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