Podcast
Questions and Answers
Which gene is associated with Li-Fraumeni syndrome, which can lead to various tumors?
Which gene is associated with Li-Fraumeni syndrome, which can lead to various tumors?
What is the primary gene associated with Melanoma in autosomal dominant cancer syndromes?
What is the primary gene associated with Melanoma in autosomal dominant cancer syndromes?
Which autosomal recessive syndrome is primarily linked to defects in the repair of DNA cross-links?
Which autosomal recessive syndrome is primarily linked to defects in the repair of DNA cross-links?
Which of the following is NOT a gene associated with hereditary nonpolyposis colon cancer?
Which of the following is NOT a gene associated with hereditary nonpolyposis colon cancer?
Signup and view all the answers
Nevoid basal cell carcinoma syndrome is associated with which gene?
Nevoid basal cell carcinoma syndrome is associated with which gene?
Signup and view all the answers
Signup and view all the answers
Study Notes
Autosomal Dominant Cancer Syndromes
- Retinoblastoma (RB): A tumor of the retina.
- Li-Fraumeni syndrome (various tumors): A syndrome associated with multiple cancers, linked to a mutation in the TP53 gene.
- Melanoma: A tumor of melanocytes (pigment-producing cells) often linked to mutations in CDKN2A.
- Familial adenomatous polyposis/colon cancer: A syndrome causing polyps in the colon linked to a mutation in the APC gene, increasing risk of colon cancer.
- Neurofibromatosis 1 and 2: These syndromes are associated with tumors and neurological disorders and involve mutations in NF1 and NF2 genes, respectively.
- Breast and ovarian tumors: Mutations in BRCA1 and BRCA2 genes significantly raise the risk of these cancers.
- Multiple endocrine neoplasia 1 and 2 (MEN1 and MEN2): Syndromes leading to tumors in endocrine glands due to mutations in the MEN1 and RET genes.
- Hereditary nonpolyposis colon cancer (HNPCC): Mutations in MSH2, MLH1, MSH6 genes are linked to this syndrome and colon cancer.
- Nevoid basal cell carcinoma syndrome: A syndrome characterized by basal cell carcinomas, tumors of the skin associated with mutations in the PTCH1 gene.
Autosomal Recessive Syndromes of Defective DNA Repair
- Xeroderma pigmentosum: A disorder causing extreme photosensitivity and risk of skin cancer, stemming from a defect in nucleotide excision repair; defects in multiple genes cause this.
- Ataxia-telangiectasia: A syndrome involving neurological problems, increased cancer risk due to issues with DNA damage response, involving mutations in the ATM gene.
- Bloom syndrome: A syndrome characterized by growth retardation, predisposition to cancers and specific DNA-damage repair issues resulting from BLM gene mutation.
- Fanconi anemia: A disorder involving DNA cross-link repair defects that manifest with bone marrow failure and increased cancer risk; various genes contribute to this.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Description
Explore the key autosomal dominant cancer syndromes, including Retinoblastoma, Li-Fraumeni syndrome, and Familial adenomatous polyposis. This quiz covers the genetic mutations linked to various tumors and the risk factors involved, providing insights into the implications of these syndromes. Test your knowledge on the relationship between genetic mutations and cancer susceptibility.
