Cowden Syndrome and PTEN Gene Mutations
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Questions and Answers

Which one of these best defines genotype?

  • The observable traits of an individual
  • The genetic composition of an individual determined by the nucleotide sequence of a gene (correct)
  • The percentage of individuals that show at least some degree of expression of a mutant phenotype
  • The range of expression of a mutant phenotype

    • Which one of these accurately describes penetrance?

  • The percentage of individuals that show at least some degree of expression of a mutant phenotype (correct)
  • The genetic composition of an individual determined by the nucleotide sequence of a gene
  • The range of expression of a mutant phenotype
  • The observable traits of an individual

    • What is the significance of gene mapping?

  • Identifying the genetic composition of an individual
  • Predicting the likelihood of disease transmission
  • Identifying the order of genes on a chromosome and determining the distance between them (correct)
  • Determining the range of expression of a mutant phenotype

    • Which of the following is NOT a risk factor for cancer?

    <p>Physical inactivity, sedentary lifestyle (D)</p> Signup and view all the answers

    Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?

    <p>Disease in the absence of known risk factors (B)</p> Signup and view all the answers

    Which gene is associated with a higher probability of breast or ovarian cancer?

    <p>BRCA1 (B)</p> Signup and view all the answers

    Which syndrome is caused by mutations in the TP53 gene and increases the risk of developing many types of cancer?

    <p>Li-Fraumeni syndrome (A)</p> Signup and view all the answers

    Which syndrome is characterized by a high pitched monochromatic cry and severe psychomotor and mental retardation?

    <p>Cri Du Chat Syndrome (A)</p> Signup and view all the answers

    Which syndrome is associated with supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?

    <p>William Syndrome (B)</p> Signup and view all the answers

    Which syndrome is characterized by predominantly distal muscle weakness and atrophy, sensory loss, and is caused by a duplication of a portion of the short arm of chromosome 17?

    <p>Charcot Marie Tooth Syndrome (C)</p> Signup and view all the answers

    Which gene mutation is associated with Cowden syndrome?

    <p>PTEN (D)</p> Signup and view all the answers

    Which gene mutation is associated with Familial Adenomatous Polyposis (FAP)?

    <p>APC (B)</p> Signup and view all the answers

    Which gene mutation is associated with MUTYH-associated polyposis (MAP)?

    <p>MUTYH (B)</p> Signup and view all the answers

    Which syndrome is also known as hereditary nonpolyposis colon cancer (HNPCC)?

    <p>Lynch syndrome (A)</p> Signup and view all the answers

    Which of the following is a characteristic of Down Syndrome (Trisomy 21)?

    <p>Distinctive malformations of the head and facial area (B)</p> Signup and view all the answers

    Which of the following is true about Turner Syndrome or 45, X Monosomy?

    <p>Infertility and underactive thyroid gland (B)</p> Signup and view all the answers

    Which of the following is a characteristic of Klinefelter Syndrome or 47, XXY?

    <p>Delayed sexual development (C)</p> Signup and view all the answers

    Which of the following is true about Wolf-Hirschhorn Syndrome or 4p deletion?

    <p>Deletion of a portion of the small arm of chromosome 4 (D)</p> Signup and view all the answers

    Which of the following accurately describes genotype?

    <p>The genetic composition of an individual determined by the nucleotide sequence of a gene (C)</p> Signup and view all the answers

    Which of the following accurately describes phenotype?

    <p>The observable trait of an individual (A)</p> Signup and view all the answers

    What is the significance of gene mapping?

    <p>Identifying the order of genes on a chromosome and determining the distance between them (D)</p> Signup and view all the answers

    Which syndrome is characterized by microcephaly, broad nasal bridge, epicanthal folds, micrognathia, and abnormal dermatoglyphics?

    <p>Cri Du Chat Syndrome (B)</p> Signup and view all the answers

    Which syndrome is associated with supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?

    <p>William Syndrome (C)</p> Signup and view all the answers

    Which syndrome is characterized by predominantly distal muscle weakness and atrophy, sensory loss, and is caused by a duplication of a portion of the short arm of chromosome 17?

    <p>Charcot Marie Tooth Syndrome (C)</p> Signup and view all the answers

    Which syndrome is characterized by the presence of many benign growths called hamartomas and an increased risk of cancer?

    <p>Cowden syndrome (A)</p> Signup and view all the answers

    Which gene mutation is associated with Familial Adenomatous Polyposis (FAP)?

    <p>APC (D)</p> Signup and view all the answers

    What is the role of genetic counselors in oncology?

    <p>Providing support services (B)</p> Signup and view all the answers

    What is the difference between autosomal dominant inheritance and autosomal recessive inheritance?

    <p>Autosomal dominant inheritance produces clinical expression of the disease with just one allele, while autosomal recessive inheritance requires two alleles (B)</p> Signup and view all the answers

    Which of the following is a characteristic of Patau Syndrome (Trisomy 13)?

    <p>Distinctive malformations of the head and facial area (B)</p> Signup and view all the answers

    Which of the following is a characteristic of Edward Syndrome (Trisomy 18)?

    <p>Delayed growth and development (D)</p> Signup and view all the answers

    Which of the following is a characteristic of Turner Syndrome or 45, X Monosomy?

    <p>Non-functioning ovaries (A)</p> Signup and view all the answers

    Which of the following is a characteristic of Klinefelter Syndrome or 47, XXY?

    <p>Sparse pubic, armpit, and facial hair (A)</p> Signup and view all the answers

    Which of the following is a risk factor for cancer?

    <p>Family history of cancer (D)</p> Signup and view all the answers

    Which of the following is a characteristic of hereditary breast and ovarian cancer syndrome (HBOC)?

    <p>Most cases caused by mutations on BRCA1 or BRCA2 gene (A)</p> Signup and view all the answers

    Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?

    <p>Multiple affected relatives with the same or related cancer (D)</p> Signup and view all the answers

    Which of the following accurately describes the BRCA1 and BRCA2 genes?

    <p>Associated with a higher probability of breast or ovarian cancer (A)</p> Signup and view all the answers

    Which of the following is a risk factor for cancer?

    <p>Being overweight (D)</p> Signup and view all the answers

    Which of the following is a characteristic of hereditary breast and ovarian cancer syndrome (HBOC)?

    <p>It is an inherited disorder with a higher risk of breast and ovarian cancer (D)</p> Signup and view all the answers

    Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?

    <p>Family history of certain cancers (C)</p> Signup and view all the answers

    Which of the following genes is associated with a higher probability of breast or ovarian cancer?

    <p>BRCA1 (C)</p> Signup and view all the answers

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