Gene VHL
Kidney cancer
Multiple non-cancerous tumors such as pheochromocytoma
Showing posts with label Genetics and Cancer Risk. Show all posts
Showing posts with label Genetics and Cancer Risk. Show all posts
Friday, August 4, 2017
Multiple Endocrine Neoplasia
Type 1 - Wermer Syndrome
Gene MEN1
pancreatic endocrine tumors.
Also (usually) benign parathyroid and pituitary gland tumors
Type 2
Gene RET
Medullary thyroid cancer
Also benign adrenal gland tumor
Gene MEN1
pancreatic endocrine tumors.
Also (usually) benign parathyroid and pituitary gland tumors
Type 2
Gene RET
Medullary thyroid cancer
Also benign adrenal gland tumor
Retinoblastoma
Gene: RB1
eye cancer, pinealoma (cancer of pineal gland), osteosarcoma, melanoma, soft tissue sarcoma
eye cancer, pinealoma (cancer of pineal gland), osteosarcoma, melanoma, soft tissue sarcoma
Familial Adenomatous Polyposis
Gene: APC
increased risk of colorectal cancer as well as non-malignant colon polyps. Also cancer of small intestine, brain, stomach, bone and skin
increased risk of colorectal cancer as well as non-malignant colon polyps. Also cancer of small intestine, brain, stomach, bone and skin
Li-Fraumeni Syndrome
Mutation in TP53 - a gene that normally acts to suppress tumors.
Less common than BRCA, but can cause early onset of cancers such as brain tumors and soft tissue sarcoma.
Less common than BRCA, but can cause early onset of cancers such as brain tumors and soft tissue sarcoma.
BRCA
1 in 400 to 800 men and women in the general populations carry BRCA1 or BRCA2 mutations.
Risk is higher in men and women of Ashkenazi Jewish descent (1 in 40 chance)
BRCA1 - breast, ovarian, melanoma, colon
PARP inhibitors - poly ADP ribose polymerace - block an enzyme used by cancer cells to repair damage to their DNA. Shows promise in patients with inherited BRCA mutations and BRCA abnormalities.
Risk is higher in men and women of Ashkenazi Jewish descent (1 in 40 chance)
BRCA1 - breast, ovarian, melanoma, colon
PARP inhibitors - poly ADP ribose polymerace - block an enzyme used by cancer cells to repair damage to their DNA. Shows promise in patients with inherited BRCA mutations and BRCA abnormalities.
- Lynparza (olaparib)
Lynch Syndrome
A hereditary disorder caused by a genetic mutation that predisposes a person to several cancers, including colon, stomach, pancreas, kidneys, brain, uterus and skin.
One out of every 279 people has it.
Lynch syndrome accounts for 2-4% of colon cancer cases in US and 2-5% endometrial cancers in women.
If a person tests positive for Lynch syndrome, their children have a 50% chance of inheriting the mutation
One out of every 279 people has it.
Lynch syndrome accounts for 2-4% of colon cancer cases in US and 2-5% endometrial cancers in women.
If a person tests positive for Lynch syndrome, their children have a 50% chance of inheriting the mutation
- MLH1
- MSH2
- MLH1 and MSH2 face a lifetime risk of developing colon cancer between 52-82% (compared with 4.8 for general population)
- MSH6 - women have 25-60% lifetime risk of developing endometrial cancer
- PMS2
- EOCAM
All genes involved in the process of DNA repair.
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