FA-pathology Neoplasias Flashcards
What is the gene product of ALK and what is the associated gain of function neoplasm
Receptor tyrosine kinase; lung adenocarcinoma
What is the gene production of BCR-ABL and what is the associated gain of function neoplasm
Tyrosine kinase; CML, ALL
What is the gene production of BCL-2 and what is the associated gain of function neoplasm
Antiapoptotic molecule; follicular and diffuse large B cell lymphoma
What is the gene production of BRAF and what is the associated gain of function neoplasm
Serine/threonine kinase; melanoma, nonhodgkin lymphoma, papillary thyroid carcinoma
What is the gene production of c-KIT and what is the associated gain of function neoplasm
Cytokine receptor; gastrointestinal stromal tumor (GIST)
What is the gene production of c-Myc and what is the associated gain of function neoplasm
Transcription factor; bri kit lymphoma
What is the gene production of HER2/neu and what is the associated gain of function neoplasm
Receptor tyrosine kinase; breast and gastric carcinomas
What is the gene production of JAK2 and what is the associated gain of function neoplasm
Tyrosine kinase; chronic myeloproliferative disorders
What is the gene production of KRAS and what is the associated gain of function neoplasm
GTPase; colon cancer, lung cancer, pancreatic cancer
What is the gene production of MYCL1 and what is the associated gain of function neoplasm
Transcription factor; lung tumor
What is the gene production of MYCN and what is the associated gain of function neoplasm
Transcription factor; neuroblastoma
What is the gene production of RET and what is the associated gain of function neoplasm
Receptor tyrosine kinase; MEN 2A and 2B, medullary thyroid cancer
What is the gene production of APC and what is the associated loss of function neoplasm
Negative regulatory of beta-catenin/WNT pathway; colorectal cancer (associated with FAP0
What is the gene production of BRCA1/BRCA2 and what is the associated loss of function neoplasm
DNA repair protein; breast, ovarian, and pancreatic cancer
What is the gene production of CDKN2A and what is the associated loss of function neoplasm
P16, blocks G1 to S phase; melanoma, pancreatic cancer
What is the gene production of DCC and what is the associated loss of function neoplasm
DCC (deleted in colon cancer); colon cancer
What is the gene production of MEN1 and what is the associated loss of function neoplasm
Menin
What is the gene production of PTEN and what is the associated loss of function neoplasm
Tyrosine phosphatase of PIP3; breast cancer, prostate cancer, endometrial cancer
What is the gene production of Rb and what is the associated loss of function neoplasm
Retinoblastoma, osteosarcoma
What is the gene production of TSC1 and what is the associated loss of function neoplasm
Hamartin protein; Tuberous sclerosis
What is the gene production of TSC2 and what is the associated loss of function neoplasm
Tuberin protein; tuberous sclerosis
What is the gene production of VHL and what is the associated loss of function neoplasm
Inhibits hypoxia inducible factor 1a; von nipple Lindau disease
Detrusor overactivity leads to what?
Urge incontinance