Intro to Hereditary cancer Flashcards
Majority of cancer is not hereditary, T or F?
True
Is cancer sporadic?
Yes, 70% of cancer is. Meaning, it occurs by chance or is related to environmental factors.
what is familial cancer?
Makes up 20%. multiple genes and environmental factors play a part. Some increase in cancer risk.
Herediatry cancer?
5-10% of cancers. Gene mutation is inherited in the family. Promotes increased cancer risks.
Signs fo hereditary cancer:
MARY acronym
M stands for:
Multiple
- multple primary cancers
- multiple family members with same cancer
- multiple generations affected
A stand for:
Ancestry
-Ashkenazi jewish ancestry
R stands for:
Rare
-example: Male breast cancer
Y stands for:
Young
-Early age at diagnosis
features of hereditary cancer in a tumor:
- MSI-dMMR - deficiency in mis-matched repair proteins.
- Incidental Germline - mutations detected in the germline during tumor profiling automatically qualify a patient for confirmatory germline testing.
Germline -
- present in every cell of the body. Including egg/sperm
- informative for both current cancer and future risk cancer
- may assist with therapy
- most are in tumor-supressor genes
- heritable
Somatic-
- present only in the tumor and cells derived from it.
- informative for the current cancer
- may assist with therapy decisions
- may be in tumor supressor genes or oncogenes
- not heritable, acquired during lifetime
Biggest difference:
Germline is heritable, somatic is not and have occured through life.
Hereditary cancer genes :
high risk, moderate risk, newer-risk
High risk-
well-studied
may cause a moderate risk for other caners
greater than 4-fold risk of developing cancer
national/expert guidelines for screening and prevention are established.