Hereditary cancer syndromes Flashcards
Breast and ovarian cancer; prostate, pancreatic, colorectal, melanoma, endometrial, gastric, biliary
BRCA1 and BRCA2
Lifetime ovarian cancer risk with BRCA1
40%
Lifetime breast cancer risk with BRCA1
57%
Lifetime ovarian cancer risk with BRCA2
18%
Lifetime breast cancer risk with BRCA2
57%
Breast and ovarian cancer; colon and rectal, stomach, small intestine, and pancreatic cancers
Peutz-Jeghers
Gene for Peutz-Jeghers
STK11
Breast cancer; sarcomas, brain cancer, leukemias, adrenocortical cancers
Li-Fraumeni
Gene for Li-Fraumeni
TP53
Breast cancer; endometrial, thyroid
Cowden
Gene for Cowden
PTEN
Colon, endometrial, ovarian, gastric
HPNCC (Lynch)
Gene for Lynch
MLH1, MSH2, MSH6, PMS2
Breast cancer; colorectal, prostate, male breast, thyroid, kidney
Hereditary breast cancer (CHEK2)
Breast cancer; pancreatic and prostate cancers
Hereditary breast cancer (PALB2)
Breast cancer; leukemias and lymphomas
Ataxia-telangectasia
Gene for ataxia-telangectasia
ATM
CHEK2: type of gene
Tumor suppressor (interacts with p53 and repairs DNA)
Cancer associated with BRIP1 mutation
Ovarian (perform risk-reducing BSO)
Cancer associated with RAD51C mutation
Ovarian (perform risk-reducing BSO)
Inheritance patter of Cowden syndrome
Autosomal dominant