40 Questions
Which one of these best defines genotype?
The genetic composition of an individual determined by the nucleotide sequence of a gene
Which one of these accurately describes penetrance?
The percentage of individuals that show at least some degree of expression of a mutant phenotype
What is the significance of gene mapping?
Identifying the order of genes on a chromosome and determining the distance between them
Which of the following is NOT a risk factor for cancer?
Physical inactivity, sedentary lifestyle
Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?
Disease in the absence of known risk factors
Which gene is associated with a higher probability of breast or ovarian cancer?
BRCA1
Which syndrome is caused by mutations in the TP53 gene and increases the risk of developing many types of cancer?
Li-Fraumeni syndrome
Which syndrome is characterized by a high pitched monochromatic cry and severe psychomotor and mental retardation?
Cri Du Chat Syndrome
Which syndrome is associated with supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?
William Syndrome
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
Which gene mutation is associated with Cowden syndrome?
PTEN
Which gene mutation is associated with Familial Adenomatous Polyposis (FAP)?
APC
Which gene mutation is associated with MUTYH-associated polyposis (MAP)?
MUTYH
Which syndrome is also known as hereditary nonpolyposis colon cancer (HNPCC)?
Lynch syndrome
Which of the following is a characteristic of Down Syndrome (Trisomy 21)?
Distinctive malformations of the head and facial area
Which of the following is true about Turner Syndrome or 45, X Monosomy?
Infertility and underactive thyroid gland
Which of the following is a characteristic of Klinefelter Syndrome or 47, XXY?
Delayed sexual development
Which of the following is true about Wolf-Hirschhorn Syndrome or 4p deletion?
Deletion of a portion of the small arm of chromosome 4
Which of the following accurately describes genotype?
The genetic composition of an individual determined by the nucleotide sequence of a gene
Which of the following accurately describes phenotype?
The observable trait of an individual
What is the significance of gene mapping?
Identifying the order of genes on a chromosome and determining the distance between them
Which syndrome is characterized by microcephaly, broad nasal bridge, epicanthal folds, micrognathia, and abnormal dermatoglyphics?
Cri Du Chat Syndrome
Which syndrome is associated with supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?
William Syndrome
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
Which syndrome is characterized by the presence of many benign growths called hamartomas and an increased risk of cancer?
Cowden syndrome
Which gene mutation is associated with Familial Adenomatous Polyposis (FAP)?
APC
What is the role of genetic counselors in oncology?
Providing support services
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
Which of the following is a characteristic of Patau Syndrome (Trisomy 13)?
Distinctive malformations of the head and facial area
Which of the following is a characteristic of Edward Syndrome (Trisomy 18)?
Delayed growth and development
Which of the following is a characteristic of Turner Syndrome or 45, X Monosomy?
Non-functioning ovaries
Which of the following is a characteristic of Klinefelter Syndrome or 47, XXY?
Sparse pubic, armpit, and facial hair
Which of the following is a risk factor for cancer?
Family history of cancer
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
Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?
Multiple affected relatives with the same or related cancer
Which of the following accurately describes the BRCA1 and BRCA2 genes?
Associated with a higher probability of breast or ovarian cancer
Which of the following is a risk factor for cancer?
Being overweight
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
Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?
Family history of certain cancers
Which of the following genes is associated with a higher probability of breast or ovarian cancer?
BRCA1
Test your knowledge about Cowden syndrome, a rare inherited disorder characterized by benign growths and an increased risk of cancer. Learn about the PTEN gene mutations and the associated risks of melanoma, breast, thyroid, endometrium, kidney, colon, and rectum cancers. Also, explore the identification of low-moderate risk genes for breast cancer susceptibility.
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