(1) What is the most likely mode of inheritance of the genetic defect? As part o
ID: 213131 • Letter: #
Question
(1) What is the most likely mode of inheritance of the genetic defect?
As part of your research, you also consult the OMIM (Online Mendelian Inheritance in Man) database and come up with a short list of candidate genes could mutate to cause John’s tumor.
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 OMIM #13110
Associated with tumors of the endocrine (hormone producing) glands. Originally
known as Wermer syndrome.
Most common tumors involve parathyroid gland, islet cells of the pancreas, and
pituitary gland.
Other endocrine tumors include adrenal cortical tumors, carcinoid tumors and rare
pheochromocytomas, as well as tumors in other parts of the digestive tract.
LYNCH SYNDROME I OMIM #120435
Also known as hereditary non-polyposis colorectal cancer (HNPCC).
Significantly increased risk of developing colorectal cancer.
Increased risk of developing other types of cancers, such as endometrial
(uterine), stomach, breast, ovarian, small bowel (intestinal), pancreatic, prostate, urinary tract, liver, kidney, and bile duct cancers.
LI-FRAUMENI SYNDROME; LFS OMIM #151623
Most common types of cancer osteosarcoma (bone cancer), soft-tissue sarcoma,
acute leukemia, breast cancer, brain cancer, and adrenal cortical tumors, which is an
organ on the top of the kidney.
Increased risk for melanoma, Wilms' tumor, and cancers of the stomach, colon,
pancreas, esophagus, lung, and gonadal germ cells (sex organs) have also been reported.
CARNEY COMPLEX, TYPE 1; CNC1 OMIM #160980
Associated with spotty skin pigmentation; myxomas, which are benign
(noncancerous) connective tissue tumors. Tumors can be benign or cancerous.
Symptoms develop when a person is in his or her early 20s.
Other common features are Cushing’s syndrome and multiple thyroid nodules
(tumors). Features a combination of weight gain, high blood pressure, diabetes, and easy bruising, caused by the overproduction of the hormone cortisol.
NEUROBLASTOMA, SUSCEPTIBILITY TO OMIM #256700
Solid cancerous tumor that begins in the nerve cells outside the brain of infants and
young children. It can start in the nerve tissue near the spine in the neck, chest,
abdomen, or pelvis, but it most often begins in the adrenal glands.
Develops most often in infants and children younger than 5.
VON HIPPEL-LINDAU SYNDROME; VHL OMIM #193300
Associated with tumors arising in multiple organs. Include hemangioblastomas,
spinal cord, and eye.
Increased risk of developing clear cell renal cell carcinoma, pheochromocytoma, and
pancreatic neuroendocrine tumor.
Other features - kidney cysts, pancreatic cysts, epididymal cystadenomas, and
endolymphatic sac tumors.
Explanation / Answer
The most common mode of inheritance of genetic defect occur due to LI-FRAUMENI disorder, CARNEY complex, and Von HIPPEL LINDAU syndrome as these disorders are autosomal dominant.
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.