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?
- CDKN2A
- APC
- TP53 (correct)
- BRCA2
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?
- NF2
- MCL1
- CDKN2A (correct)
- PTCH1
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?
- Fanconi anemia (correct)
- Bloom syndrome
- Xeroderma pigmentosum
- Ataxia-telangiectasia
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?
Nevoid basal cell carcinoma syndrome is associated with which gene?
Nevoid basal cell carcinoma syndrome is associated with which gene?
Flashcards
Retinoblastoma (RB)
Retinoblastoma (RB)
An inherited disorder where a mutation in the RB gene leads to an increased risk of developing retinoblastoma, a type of eye cancer.
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
A syndrome caused by mutations in the TP53 gene, increasing susceptibility to various cancers including breast, brain, and bone cancers.
Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP)
A disorder associated with a mutation in the APC gene, drastically increasing the risk of developing hundreds of polyps in the colon, which can later progress to colon cancer.
Breast and Ovarian Cancer Syndromes (BRCA1/2)
Breast and Ovarian Cancer Syndromes (BRCA1/2)
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Ataxia-telangiectasia (ATM)
Ataxia-telangiectasia (ATM)
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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.
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