Cowden Syndrome and PTEN Gene Mutations

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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?

Physical inactivity, sedentary lifestyle Signup and view all the answers

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

Disease in the absence of known risk factors Signup and view all the answers

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

BRCA1 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?

Li-Fraumeni syndrome Signup and view all the answers

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

Cri Du Chat Syndrome Signup and view all the answers

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

William Syndrome 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?

Charcot Marie Tooth Syndrome Signup and view all the answers

Which gene mutation is associated with Cowden syndrome?

PTEN Signup and view all the answers

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

APC Signup and view all the answers

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

MUTYH Signup and view all the answers

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

Lynch syndrome Signup and view all the answers

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

Distinctive malformations of the head and facial area Signup and view all the answers

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

Infertility and underactive thyroid gland Signup and view all the answers

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

Delayed sexual development Signup and view all the answers

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

Deletion of a portion of the small arm of chromosome 4 Signup and view all the answers

Which of the following accurately describes genotype?

The genetic composition of an individual determined by the nucleotide sequence of a gene Signup and view all the answers

Which of the following accurately describes phenotype?

The observable trait of an individual Signup and view all the answers

What is the significance of gene mapping?

Identifying the order of genes on a chromosome and determining the distance between them Signup and view all the answers

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

Cri Du Chat Syndrome Signup and view all the answers

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

William Syndrome 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?

Charcot Marie Tooth Syndrome 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?

Cowden syndrome Signup and view all the answers

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

APC Signup and view all the answers

What is the role of genetic counselors in oncology?

Providing support services Signup and view all the answers

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

Autosomal dominant inheritance produces clinical expression of the disease with just one allele, while autosomal recessive inheritance requires two alleles Signup and view all the answers

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

Distinctive malformations of the head and facial area Signup and view all the answers

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

Delayed growth and development Signup and view all the answers

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

Non-functioning ovaries Signup and view all the answers

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

Sparse pubic, armpit, and facial hair Signup and view all the answers

Which of the following is a risk factor for cancer?

Family history of cancer Signup and view all the answers

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

Most cases caused by mutations on BRCA1 or BRCA2 gene Signup and view all the answers

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

Multiple affected relatives with the same or related cancer Signup and view all the answers

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

Associated with a higher probability of breast or ovarian cancer Signup and view all the answers

Which of the following is a risk factor for cancer?

Being overweight Signup and view all the answers

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

It is an inherited disorder with a higher risk of breast and ovarian cancer Signup and view all the answers

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

Family history of certain cancers Signup and view all the answers

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

BRCA1 Signup and view all the answers

Cowden Syndrome and PTEN Gene Mutations

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Questions and Answers

Which one of these best defines genotype?

Which one of these accurately describes penetrance?

What is the significance of gene mapping?

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

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

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

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

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

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

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?

Which gene mutation is associated with Cowden syndrome?

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

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

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

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

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

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

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

Which of the following accurately describes genotype?

Which of the following accurately describes phenotype?

What is the significance of gene mapping?

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

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

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?

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

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

What is the role of genetic counselors in oncology?

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

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

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

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

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

Which of the following is a risk factor for cancer?

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

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

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

Which of the following is a risk factor for cancer?

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

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

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

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