Genetics and Cancer Flashcards
BRCA1/2
Breast and Ovarian
MLH1, MSH2, MSH6, PMS2
lynch syndrome aka HNPCC COLON, ENDOMETRIAL, STOMACH, OVARIAN - this if FYI info
PTEN
breast/endometrial/thyroid
p53
breast, brain, sarcoma, leukemia, adrenal cortical cancer
APC/MYH
colon, colon polyps
CDH1
breast/stomach
P16
melanoma/pancreatic
4 examples of hereditary breast cancer syndromes
- Li Fraumeni
- PTEN hamartoma
- Peutz Jeghers
- Hereditary diffuse gastric cancer syndrome
and more (bloom, familial melanoma, werner, xeroderma pigmentoas)
where is BRAC1 located?
chromosome 17
where is BRCA2 located?
chromosome 13
what is risk for invasive breast cancer in females with BRCA1?
50-80%, up to 60% serous ovarian..
risk for invasive breast in females with BRCA2?
40-85%
Lynch syndrome also known as…
hereditary nonpolyposis colorectal cancer
HNPCC
hereditary nonpolyposis colorectal cancer
what cancers does lynch syndrome increase risk for?
colon, endometrial, ovary, stomach, small intestine, biliary tracts, renal, skin cancers
what is genetic pattern of lynch syndrome?
autosomal dominant
findings of malignant neoplasms:
more rapid growth, higher vascularity, weird functions and if metastasis it is malignant
3 key features in benign neoplasm
- structural differentiation retained
- organized
- functional differentiation usually pretty complete
3 key features malignant neoplasms
- structural differentiation to retained
- disorganized
- functional differentiation usually very incomplete (less differentiated)
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
benign neoplasms are diploid T or F
true
dysplasia is defined
a premalignant condition, including increased cell growth and cellular atypical
CIS
in-situ malignancy
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
