Biology
tumor suppressor genes that help with DNA repair
What is the role of BRCA genes?
percent of ovarian cancer that is associated with a heritable cancer syndrome
What is 20%?
The risk of breast cancer by age 70 in BRCA2 mutation carriers
What is 49 %
Caused by defects in the DNA mismatch repair genes, including MLH1, MSH2,MSH6, PMS2, and EPCAM
Accounts for most inherited uterine and colon cancer
About 5% of uterine cancer
Lifetime risk of colon cancer (52–82%), endometrial cancer (25–60%), and ovarian cancer (4–24%).
What is Lynch syndrome?
aka hereditary nonpolyposis colorectal cancer syndrome (HNPCC)
Chromosome 13
Where is the gene for BRCA2 found?
percent of breast cancer is associated with BRCA 1/2
What is 5%?
The risk of ovarian cancer by age 70 in BRCA2 carriers
What is 10-27 %
Mutations in the tumor suppressor gene TP53
Increased risk of multiple tumors: osteosarcoma, breast cancer, colon cancer, adrenocortical carcinoma, leukemia and lymphoma, and brain cancer.
What is LiFraumeni syndrome?
Chromosome 17
Where is the gene for BRCA 1 found?
The proportion of individuals who carry a pathogenic variant that develop the disease
What is penetrance?
Risk of breast cancer by age 70 with a BRCA1 mutation
What is 57%?
Pathogenic variants in the phosphatase and tensin (PTEN) gene
A hamartomatous syndrome characterized by benign and malignant neoplasms of the thyroid, breast, and endometrium.
Affected individuals usually have macrocephaly
Pathognomonic skin lesions, including papillomatous papules on the face and mucous membranes nearly always present by age 30 years.
High lifetime risk of breast cancer (25–50%), endometrial cancer (5–10%), and colon cancer (9%), and thyroid cancer
What is Cowden syndrome?
Other BRCA 1/2 associated cancers
What are prostate, melanoma, pancreatic, possibly uterine- especially papillary serous?
A pathogenic variant identified in a contemporary population that can be traced to a small group of founders isolated by geographic, cultural, or other factors.
What is the founder effect?
Risk of ovarian cancer by age 70 in BRCA1 mutation carriers
What is 39-46 %
Pathogenic variants in the serine/ threonine kinase 11 (STK11) gene
Associated with hamartomatous polyps throughout the gastrointestinal tract and
mucocutaneous hyperpigmentation (freckling) of the mouth, lips, nose, eyes, genitalia, or fingers
Associated iwth ani ncreased risk of breast cancer (50% lifetime risk), ovarian sex cord stromal cancer, cervical cancer, uterine cancer, pancreatic cancer, lung cancer, gastric cancer, and colon cancer
What is Peutz-Jeghers?