MCQ CONGENITAL HEART DISEASE FOR PG EXAM

 

1. What is the teratogenic risk associated with lithium exposure during pregnancy?
   A. Neural tube defects
   B. Ebstein anomaly
   C. Atrial septal defect
   D. Hypoplastic left heart syndrome
   Correct Answer: B. Ebstein anomaly
   Explanation: Lithium exposure is associated with Ebstein anomaly in retrospective studies.

2. Which drug is associated with Fetal Hydantoin Syndrome?
   A. Carbamazepine
   B. Phenytoin
   C. Sodium valproate
   D. Trimethadione
   Correct Answer: B. Phenytoin
   Explanation: Phenytoin use during pregnancy causes Fetal Hydantoin Syndrome, characterized by craniofacial and other abnormalities.

3. What is the recurrence risk of congenital heart disease (CHD) in maternal inheritance?
   A. 3%-7%
   B. 2%-6%
   C. 4%-9%
   D. 5%-10%
   Correct Answer: A. 3%-7%
   Explanation: Maternal inheritance of CHD has a recurrence risk of 3%-7%.

4. How much does the risk of CHD increase in pregnancies using assisted reproductive technology (IVF/ICSI)?
   A. 20%-30%
   B. 30%-40%
   C. 40%-50%
   D. 50%-60%
   Correct Answer: B. 30%-40%
   Explanation: Assisted reproductive technologies, such as IVF/ICSI, increase CHD risk by 30%-40%.

5. Which cardiac anomaly is common in monochorionic pregnancies with TTTS?
   A. Tetralogy of Fallot
   B. Truncus arteriosus
   C. Atrial septal defect
   D. Ventricular septal defect
   Correct Answer: C. Atrial septal defect
   Explanation: TTTS in monochorionic pregnancies is commonly associated with atrial septal defects.

6. What is the recommended maternal phenylalanine level to prevent CHD in phenylketonuria?
   A. >10 mg/dL
   B. >15 mg/dL
   C. <6 mg/dL
   D. <10 mg/dL
   Correct Answer: C. <6 mg/dL
   Explanation: Maternal phenylalanine levels should be maintained below 6 mg/dL to reduce CHD risk.

7. What is the relative risk of CHD in infants of diabetic mothers compared to non-diabetic mothers?
   A. 3 times
   B. 5-fold
   C. 10-fold
   D. 15-fold
   Correct Answer: B. 5-fold
   Explanation: Diabetic mothers have a 5-fold increased risk of having infants with CHD.

8. Which fetal condition is associated with maternal alcohol consumption?
   A. Neural tube defects
   B. Fetal Alcohol Syndrome
   C. Gastroschisis
   D. Facial abnormalities
   Correct Answer: B. Fetal Alcohol Syndrome
   Explanation: Fetal Alcohol Syndrome results from maternal alcohol consumption and includes growth and cardiac abnormalities.

9. What is the main cardiac risk of using NSAIDs during the third trimester?
   A. Pulmonary hypertension
   B. Truncus arteriosus
   C. Premature ductus arteriosus closure
   D. Atrial septal defect
   Correct Answer: C. Premature ductus arteriosus closure
   Explanation: NSAID use during late pregnancy is linked to premature ductus arteriosus closure.

10. Which medication is linked to neural, craniofacial, and cardiac abnormalities when used during pregnancy?
    A. Folic acid
    B. Retinoic acid
    C. Vitamin A
    D. Selective NSAIDs
    Correct Answer: B. Retinoic acid
    Explanation: Retinoic acid use during pregnancy is associated with craniofacial, neural, and cardiac abnormalities.

11. Which SSRI is most associated with congenital heart defects?
    A. Citalopram
    B. Paroxetine
    C. Fluoxetine
    D. Sertraline
    Correct Answer: B. Paroxetine
    Explanation: Among SSRIs, paroxetine is most strongly associated with congenital heart defects.

12. What is the increased CHD risk in mothers with severe obesity?
    A. 2-fold
    B. 1.5-fold
    C. 4.1-fold
    D. 3-fold
    Correct Answer: C. 4.1-fold
    Explanation: Severe obesity increases the risk of CHD by 4.1-fold compared to mothers with normal weight.

13. What supplement is known to significantly reduce the risk of CHD?
    A. Vitamin D
    B. Iron
    C. Folic acid
    D. Calcium
    Correct Answer: C. Folic acid
    Explanation: Folic acid supplementation has been proven to reduce CHD risk when taken preconceptionally.

14. What is the incidence of CHD per 1000 live births?
    A. 6-8 per 1000
    B. 8-9 per 1000
    C. 10-12 per 1000
    D. 7-9 per 1000
    Correct Answer: B. 8-9 per 1000
    Explanation: CHD incidence is estimated to be 8-9 per 1000 live births globally.

15. Which fetal condition is associated with maternal phenylketonuria if not controlled?
    A. Truncus arteriosus
    B. Septal defects
    C. Ventricular hypertrophy
    D. Neural tube defects
    Correct Answer: B. Septal defects
    Explanation: Poor control of maternal phenylketonuria increases the risk of septal defects in the fetus.

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16. Which drug is linked to craniofacial abnormalities and oxidative metabolite effects during pregnancy?
    A. Carbamazepine
    B. Sodium valproate
    C. Phenytoin
    D. Trimethadione
    Correct Answer: C. Phenytoin
    Explanation: Phenytoin causes craniofacial abnormalities and oxidative metabolite effects in fetuses.

17. What is the recurrence risk of CHD in paternal inheritance?
    A. 3%-7%
    B. 2%-6%
    C. 4%-9%
    D. 5%-10%
    Correct Answer: B. 2%-6%
    Explanation: The recurrence risk of CHD is 2%-6% in cases of paternal inheritance.

18. Which condition increases the risk of CHD by 30%-40%?
    A. Maternal diabetes
    B. IVF/ICSI pregnancies
    C. Phenylketonuria
    D. Lithium exposure
    Correct Answer: B. IVF/ICSI pregnancies
    Explanation: Assisted reproductive technologies (e.g., IVF/ICSI) are associated with a 30%-40% increase in CHD risk.

19. Which syndrome is caused by phenytoin exposure during pregnancy?
    A. Ebstein anomaly
    B. Fetal Hydantoin Syndrome
    C. Retinoic Acid Syndrome
    D. Persistent Pulmonary Hypertension Syndrome
    Correct Answer: B. Fetal Hydantoin Syndrome
    Explanation: Phenytoin exposure is associated with Fetal Hydantoin Syndrome, which includes craniofacial defects.

20. What is the primary effect of maternal alcohol consumption on the fetus?
    A. Facial abnormalities
    B. Cardiac anomalies
    C. Growth retardation
    D. All of the above
    Correct Answer: D. All of the above
    Explanation: Fetal Alcohol Syndrome encompasses facial abnormalities, growth retardation, and cardiac defects.

21. Which SSRI is least associated with congenital heart defects?
    A. Paroxetine
    B. Fluoxetine
    C. Citalopram
    D. Sertraline
    Correct Answer: C. Citalopram
    Explanation: Citalopram has the lowest association with congenital heart defects compared to other SSRIs.

22. What is the CHD incidence in pregnancies complicated by phenylketonuria?
    A. 5%-10%
    B. 10%-15%
    C. 15%-20%
    D. 20%-25%
    Correct Answer: B. 10%-15%
    Explanation: Uncontrolled maternal phenylketonuria increases CHD risk by 10%-15%.

23. What is the fetal risk associated with ACE inhibitor use in pregnancy?
    A. Persistent pulmonary hypertension
    B. ACE inhibitor fetopathy
    C. Neural tube defects
    D. Retinoic Acid Syndrome
    Correct Answer: B. ACE inhibitor fetopathy
    Explanation: ACE inhibitors are associated with growth restriction, oligohydramnios, and renal failure in fetuses.

24. What supplementation significantly reduces CHD risk when taken preconceptionally?
    A. Vitamin D
    B. Folic acid
    C. Iron
    D. Omega-3 fatty acids
    Correct Answer: B. Folic acid
    Explanation: Folic acid supplementation before conception is proven to lower CHD risk.

25. Which maternal condition is linked to persistent pulmonary hypertension in newborns?
    A. Phenylketonuria
    B. Obesity
    C. NSAID use in late pregnancy
    D. Diabetes mellitus
    Correct Answer: C. NSAID use in late pregnancy
    Explanation: Late pregnancy NSAID use is associated with persistent pulmonary hypertension in newborns.

26. What is the recommended maternal HbA1c level to reduce CHD risk?
    A. <6%
    B. <7%
    C. <8%
    D. <5%
    Correct Answer: A. <6%
    Explanation: Maintaining maternal HbA1c <6% is crucial for reducing CHD risk in the fetus.

27. Which maternal condition is linked to truncus arteriosus in the fetus?
    A. Obesity
    B. Diabetes mellitus
    C. Phenylketonuria
    D. Hypertension
    Correct Answer: B. Diabetes mellitus
    Explanation: Truncus arteriosus is commonly linked to pregnancies affected by maternal diabetes.

28. What is the major teratogenic risk of valproate use during pregnancy?
    A. Neural tube defects
    B. Craniofacial abnormalities
    C. Growth restriction
    D. Ventricular septal defect
    Correct Answer: A. Neural tube defects
    Explanation: Sodium valproate is highly associated with neural tube defects in the fetus.

29. Which maternal metabolic disorder increases CHD risk by fivefold?
    A. Phenylketonuria
    B. Diabetes mellitus
    C. Hypertension
    D. Obesity
    Correct Answer: B. Diabetes mellitus
    Explanation: Maternal diabetes increases CHD risk by fivefold compared to pregnancies without diabetes.

30. What fetal abnormality is associated with elevated phenylalanine levels in phenylketonuria?
    A. Atrial septal defect
    B. Neural tube defects
    C. Septal defects
    D. Ventricular hypertrophy
    Correct Answer: C. Septal defects
    Explanation: Poorly controlled phenylketonuria leads to an increased risk of septal defects in the fetus.

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31. Which maternal condition increases the risk of atrial and ventricular septal defects?
    A. Phenylketonuria
    B. Obesity
    C. Diabetes mellitus
    D. Hypertension
    Correct Answer: C. Diabetes mellitus
    Explanation: Diabetes mellitus is associated with atrial and ventricular septal defects in fetuses.

32. What is the CHD risk increase in children born to severely obese mothers?
    A. 2-fold
    B. 1.5-fold
    C. 4.1-fold
    D. 3-fold
    Correct Answer: C. 4.1-fold
    Explanation: Severe maternal obesity increases CHD risk by 4.1 times compared to normal-weight mothers.

33. What is the primary preventive measure for reducing CHD risk?
    A. Vitamin D supplementation
    B. Folic acid supplementation
    C. Iron supplementation
    D. Omega-3 fatty acids
    Correct Answer: B. Folic acid supplementation
    Explanation: Folic acid taken preconceptionally significantly reduces CHD risk.

34. Which fetal condition is caused by maternal alcohol consumption?
    A. Atrial septal defect
    B. Neural tube defects
    C. Fetal Alcohol Syndrome
    D. Persistent pulmonary hypertension
    Correct Answer: C. Fetal Alcohol Syndrome
    Explanation: Maternal alcohol use during pregnancy leads to Fetal Alcohol Syndrome, characterized by growth retardation, facial abnormalities, and CHD.

35. Which maternal condition is associated with persistent pulmonary hypertension in the newborn?
    A. NSAID use in late pregnancy
    B. Obesity
    C. Diabetes mellitus
    D. Phenylketonuria
    Correct Answer: A. NSAID use in late pregnancy
    Explanation: Persistent pulmonary hypertension in newborns is linked to NSAID use during the third trimester.

36. What is the incidence of CHD per 1000 live births?
    A. 10-12 per 1000
    B. 8-9 per 1000
    C. 6-8 per 1000
    D. 7-10 per 1000
    Correct Answer: B. 8-9 per 1000
    Explanation: CHD incidence is approximately 8-9 cases per 1000 live births.

37. Which medication is contraindicated in pregnancy due to craniofacial and cardiac risks?
    A. Retinoic acid
    B. Paroxetine
    C. Lithium
    D. Sodium valproate
    Correct Answer: A. Retinoic acid
    Explanation: Retinoic acid exposure during pregnancy can lead to neural, craniofacial, and cardiac abnormalities.

38. Which drug is a common cause of Ebstein anomaly?
    A. Lithium
    B. Phenytoin
    C. Valproate
    D. Carbamazepine
    Correct Answer: A. Lithium
    Explanation: Lithium exposure in pregnancy is strongly linked to Ebstein anomaly.

39. What is the teratogenic risk of anticonvulsant use during pregnancy?
    A. Neural tube defects
    B. Facial abnormalities
    C. Both A and B
    D. None
    Correct Answer: C. Both A and B
    Explanation: Anticonvulsants are associated with both neural tube defects and facial abnormalities.

40. Which fetal abnormality is linked to maternal obesity?
    A. Persistent pulmonary hypertension
    B. Craniofacial abnormalities
    C. Cardiac defects
    D. Neural tube defects
    Correct Answer: C. Cardiac defects
    Explanation: Severe maternal obesity increases the likelihood of fetal cardiac defects.

41. Which syndrome is most associated with phenytoin use during pregnancy?
    A. Ebstein anomaly
    B. Fetal Hydantoin Syndrome
    C. Persistent Pulmonary Hypertension Syndrome
    D. Neural Tube Defect Syndrome
    Correct Answer: B. Fetal Hydantoin Syndrome
    Explanation: Phenytoin is linked to Fetal Hydantoin Syndrome, involving craniofacial and limb defects.

42. Which drug is most associated with atrial and ventricular septal defects when used during pregnancy?
    A. Paroxetine
    B. Retinoic acid
    C. Lithium
    D. Sodium valproate
    Correct Answer: A. Paroxetine
    Explanation: Paroxetine is an SSRI strongly linked to congenital cardiac defects, especially septal defects.

43. Which maternal metabolic condition is associated with truncus arteriosus?
    A. Phenylketonuria
    B. Diabetes mellitus
    C. Obesity
    D. Hypertension
    Correct Answer: B. Diabetes mellitus
    Explanation: Truncus arteriosus is more common in pregnancies complicated by maternal diabetes.

44. What is the fetal risk associated with ACE inhibitors in pregnancy?
    A. Premature closure of ductus arteriosus
    B. ACE inhibitor fetopathy
    C. Retinoic Acid Syndrome
    D. Persistent pulmonary hypertension
    Correct Answer: B. ACE inhibitor fetopathy
    Explanation: ACE inhibitors can cause fetopathy, including growth restriction, oligohydramnios, and renal failure.

45. What is the most critical preventive measure for maternal phenylketonuria?
    A. Weight management
    B. Glycemic control
    C. Phenylalanine level <6 mg/dL
    D. Folic acid supplementation
    Correct Answer: C. Phenylalanine level <6 mg/dL
    Explanation: Maintaining phenylalanine levels <6 mg/dL reduces CHD risk in phenylketonuria pregnancies.

46. What is the key teratogenic risk of sodium valproate use during pregnancy?
    A. Neural tube defects
    B. Growth retardation
    C. Craniofacial abnormalities
    D. Ventricular hypertrophy
    Correct Answer: A. Neural tube defects
    Explanation: Sodium valproate is strongly associated with neural tube defects in fetuses.

47. What is the CHD risk increase in pregnancies achieved through IVF/ICSI?
    A. 10%-20%
    B. 20%-30%
    C. 30%-40%
    D. 40%-50%
    Correct Answer: C. 30%-40%
    Explanation: CHD risk increases by 30%-40% in pregnancies achieved via IVF/ICSI.

48. Which maternal factor increases the risk of atrial septal defects?
    A. Retinoic acid exposure
    B. Obesity
    C. Diabetes mellitus
    D. NSAID use
    Correct Answer: C. Diabetes mellitus
    Explanation: Diabetes mellitus is linked to an increased risk of atrial septal defects.

49. What fetal abnormality is commonly seen with poorly controlled maternal phenylketonuria?
    A. Atrial septal defect
    B. Septal defects
    C. Neural tube defects
    D. Tetralogy of Fallot
    Correct Answer: B. Septal defects
    Explanation: Uncontrolled phenylketonuria significantly increases the risk of septal defects in the fetus.

50. Which supplement significantly reduces the risk of CHD when taken preconceptionally?
    A. Vitamin D
    B. Folic acid
    C. Calcium
    D. Omega-3 fatty acids
    Correct Answer: B. Folic acid
    Explanation: Preconceptional folic acid supplementation is proven to lower the risk of CHD.

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MCQ ON Lynch syndrome

  MCQ --LYNCH SYNDROME 

1. Which syndrome increases colorectal cancer risk due to mismatch repair gene mutation?
• A. Peutz-Jeghers syndrome
• B. Lynch syndrome
• C. Familial adenomatous polyposis
• D. Li-Fraumeni syndrome
• Answer: B. Lynch syndrome
2. Lynch syndrome often causes cancer in which part of the colon?
• A. Distal colon
• B. Transverse colon
• C. Proximal colon
• D. Sigmoid colon
• Answer: C. Proximal colon
3. What is the recommended colonoscopic surveillance interval for MLH1 and MSH2 mutation carriers?
• A. 1 year
• B. 2 years
• C. 5 years
• D. 10 years
• Answer: B. 2 years
4. Which mutation is commonly linked to Lynch syndrome?
• A. BRCA1
• B. APC
• C. MSH2
• D. TP53
• Answer: C. MSH2
5. What criteria are used to diagnose Lynch syndrome based on family history?
• A. Dukes’ criteria
• B. Amsterdam II criteria
• C. TNM criteria
• D. Bethesda criteria
• Answer: B. Amsterdam II criteria

6.Lynch syndrome is primarily caused by mutations in which type of genes?

• A. Tumor suppressor genes
• B. Mismatch repair genes
• C. Oncogenes
• D. Cell cycle genes
• Answer: B. Mismatch repair genes

7.What is the lifetime risk of cancer in Lynch syndrome carriers?

• A. 10%
• B. 50%
• C. 80%
• D. 100%
• Answer: C. 80%

8.Which of the following is NOT part of the Amsterdam II criteria?

• A. At least two successive affected generations
• B. Three or more family members with related cancer
• C. Tumors confirmed by immunohistochemistry
• D. One case diagnosed before age 50
• Answer: C. Tumors confirmed by immunohistochemistry

9.For PMS2 mutation carriers, what is the recommended screening interval?

• A. Every year from age 20
• B. Every 2 years from age 25
• C. Every 3 years from age 35
• D. Every 5 years from age 40
• Answer: D. Every 5 years from age 35

10.Colorectal cancer in Lynch syndrome is most commonly found in which colon segment?

• A. Sigmoid colon
• B. Rectum
• C. Proximal colon
• D. Descending colon
• Answer: C. Proximal colon

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11.Lynch syndrome is also associated with cancers in which organs?

o   A. Liver and kidney

o   B. Skin and bones

o   C. Endometrium, ovary, and stomach

o   D. Brain and spinal cord

o   Answer: C. Endometrium, ovary, and stomach

12.What is the genetic basis of Lynch syndrome?

o   A. Autosomal dominant mutation

o   B. Autosomal recessive mutation

o   C. X-linked mutation

o   D. Sporadic mutation

o   Answer: A. Autosomal dominant mutation

13.Which of the following is NOT a gene associated with Lynch syndrome?

o   A. MLH1

o   B. MSH2

o   C. PMS2

o   D. BRCA1

o   Answer: D. BRCA1

14.The mutations in Lynch syndrome impair the function of which pathway?

o   A. Apoptotic pathway

o   B. Mismatch repair pathway

o   C. Cell cycle checkpoint pathway

o   D. Hormonal pathway

o   Answer: B. Mismatch repair pathway

15.Individuals with Lynch syndrome are at risk of developing which type of genetic instability?

o   A. Microsatellite instability

o   B. Chromosomal instability

o   C. Epigenetic instability

o   D. Structural instability

o   Answer: A. Microsatellite instability

16.What is the risk of developing cancer by age 50 for those with Lynch syndrome?

o   A. 10%

o   B. 50%

o   C. 80%

o   D. 100%

o   Answer: C. 80%

17.In Lynch syndrome, what is the range of lifetime cancer risk of endometrial cancer in females?

o   A. 10-20%

o   B. 30-50%

o   C. 50-70%

o   D. 70-90%

o   Answer: B. 30-50%

18.Which screening criteria is used for identifying Lynch syndrome based on family history?

o   A. Amsterdam II criteria

o   B. Bethesda criteria

o   C. Dukes’ criteria

o   D. Paris criteria

o   Answer: A. Amsterdam II criteria

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19.The Amsterdam II criteria for Lynch syndrome diagnosis require at least how many family members with Lynch syndrome-related cancer?

• A. One
• B. Two
• C. Three
• D. Four
• Answer: C. Three

20.How many generations need to be affected according to the Amsterdam II criteria?

• A. One
• B. Two
• C. Three
• D. Four
• Answer: B. Two

21.For a Lynch syndrome diagnosis, at least one case of cancer should be diagnosed before what age?

• A. 30
• B. 40
• C. 50
• D. 60
• Answer: C. 50

22.What is recommended for MLH1 and MSH2 carriers in terms of colorectal surveillance?

• A. Annual colonoscopy starting at age 20
• B. 2-yearly colonoscopy starting at age 25
• C. 5-yearly colonoscopy starting at age 30
• D. 3-yearly colonoscopy starting at age 35
• Answer: B. 2-yearly colonoscopy starting at age 25

23.What type of genetic change is a feature of Lynch syndrome-related tumors?

• A. Somatic mutations
• B. Microsatellite instability
• C. Germline mutations
• D. Chromosomal rearrangements

24.Lynch syndrome primarily increases the risk of which type of cancer?

• A. Breast cancer
• B. Prostate cancer
• C. Colorectal cancer
• D. Liver cancer
• Answer: C. Colorectal cancer

25.Which organs, aside from the colon, are associated with an increased risk of cancer in Lynch syndrome?

• A. Kidney, lung, and bladder
• B. Endometrium, ovary, and stomach
• C. Pancreas, brain, and liver
• D. Skin, bone, and muscle
• Answer: B. Endometrium, ovary, and stomach

26.What is the inheritance pattern of Lynch syndrome?

• A. Autosomal dominant
• B. Autosomal recessive
• C. X-linked dominant
• D. X-linked recessive
• Answer: A. Autosomal dominant

27.Which gene is NOT typically involved in Lynch syndrome?

• A. MLH1
• B. MSH2
• C. PMS2
• D. BRCA2
• Answer: D. BRCA2

28.What is the primary role of the genes affected in Lynch syndrome?

• A. DNA repair in the mismatch repair pathway
• B. Regulating cell cycle checkpoints
• C. Inducing apoptosis
• D. Controlling hormonal pathways
• Answer: A. DNA repair in the mismatch repair pathway

29.What type of genetic instability is characteristic of Lynch syndrome?

• A. Microsatellite instability (MSI)
• B. Chromosomal instability (CIN)
• C. Epigenetic instability
• D. Telomere instability
• Answer: A. Microsatellite instability (MSI)

30.Lynch syndrome-related cancers often follow an accelerated pathway from adenoma to carcinoma, especially for which type of polyps?

• A. Hyperplastic polyps
• B. Sessile serrated polyps
• C. Tubular adenomas
• D. Small adenomatous polyps
• Answer: D. Small adenomatous polyps

31.What is the estimated lifetime risk of developing colorectal cancer in individuals with Lynch syndrome?

• A. 10%
• B. 50%
• C. 80%
• D. 90%
• Answer: C. 80%

32.In Lynch syndrome, which part of the colon is most commonly affected by cancer?

• A. Distal colon
• B. Transverse colon
• C. Proximal colon
• D. Sigmoid colon
• Answer: C. Proximal colon

33.In addition to colorectal cancer, females with Lynch syndrome are at risk for which other cancer with a 30-50% lifetime risk?

• A. Breast cancer
• B. Endometrial cancer
• C. Ovarian cancer
• D. Cervical cancer
• Answer: B. Endometrial cancer

34.What is the recommended colonoscopic screening interval for individuals with MLH1 or MSH2 mutations?

• A. Annual from age 20
• B. Every 2 years from age 25
• C. Every 3 years from age 30
• D. Every 5 years from age 35
• Answer: B. Every 2 years from age 25

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35.The Amsterdam II criteria for diagnosing Lynch syndrome require how many family members to have Lynch syndrome-related cancer?

• A. One
• B. Two
• C. Three
• D. Four
• Answer: C. Three

36.For a diagnosis of Lynch syndrome under the Amsterdam II criteria, cases must involve at least how many successive generations?

• A. One
• B. Two
• C. Three
• D. Four
• Answer: B. Two

37.According to the Amsterdam II criteria, at least one case of cancer should be diagnosed before which age?

• A. 40
• B. 50
• C. 60
• D. 70
• Answer: B. 50

38.Which type of mutation is commonly found in colorectal cancers associated with Lynch syndrome?

• A. BRCA mutation
• B. Germline mutation in mismatch repair genes
• C. Somatic mutation in TP53
• D. Chromosomal rearrangements
• Answer: B. Germline mutation in mismatch repair gen

39.What is Lynch syndrome primarily associated with?

• A. Breast cancer risk
• B. Skin disorder
• C. Hereditary colorectal cancer risk
• D. Cardiovascular disease
• Answer: C. Hereditary colorectal cancer risk

40Which gene mutation type is commonly involved in Lynch syndrome?

• A. Germline mutation in DNA mismatch repair genes
• B. Somatic mutation in skin cells
• C. Autosomal recessive mutation
• D. X-linked mutation
• Answer: A. Germline mutation in DNA mismatch repair genes

41.Lynch syndrome increases the risk of which other cancers besides colorectal?

• A. Skin and bone cancers
• B. Endometrial, ovarian, and stomach cancers
• C. Brain and spinal cord cancers
• D. Lung and liver cancers
• Answer: B. Endometrial, ovarian, and stomach cancers

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42.Which diagnostic criteria are used to identify Lynch syndrome based on family history?

• A. Bethesda criteria
• B. Amsterdam II criteria
• C. Dukes' staging
• D. TNM staging
• Answer: B. Amsterdam II criteria

43.According to the Amsterdam II criteria, what is the minimum number of family members who must be affected by a Lynch syndrome-related cancer for diagnosis?

• A. One
• B. Two
• C. Three
• D. Four
• Answer: C. Three

Lynch Syndrome

44.Lynch syndrome, a common cause of hereditary colorectal cancer, results from mutations in which genes involved in DNA mismatch repair?

• A. BRCA1 and BRCA2
• B. MLH1, MSH2, MSH6, and PMS2
• C. APC and TP53
• D. EGFR and KRAS
• Answer: B. MLH1, MSH2, MSH6, and PMS2

45.What is the main genetic feature that differentiates Lynch syndrome from other colorectal cancer syndromes?

• A. Chromosomal instability
• B. Microsatellite instability (MSI)
• C. Loss of heterozygosity
• D. Telomere shortening
• Answer: B. Microsatellite instability (MSI)
• .

46.In Lynch syndrome, individuals with which mutations should start colorectal surveillance at age 25 with 2-year intervals?

• A. MLH1 and MSH2
• B. MSH6 and PMS2
• C. TP53 and BRCA1
• D. APC and STK11
• Answer: A. MLH1 and MSH2

47.Why might females with Lynch syndrome have a recommendation for gynecological screening?

• A. They have a risk of early menopause.
• B. They are at higher risk for endometrial and ovarian cancers.
• C. Hormonal imbalances are common in Lynch syndrome.
• D. It is part of the general screening for all cancer syndromes.
• Answer: B. They are at higher risk for endometrial and ovarian cancers.

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48.The Amsterdam II criteria are specifically used to diagnose Lynch syndrome based on family history. Which of the following is NOT part of these criteria?

• A. At least three family members with Lynch syndrome-related cancers
• B. Cancer affecting at least two successive generations
• C. At least one Lynch syndrome-related cancer diagnosed before age 50
• D. Confirmation by genetic testing
• Answer: D. Confirmation by genetic testing

49.Which type of laboratory testing is often performed to confirm Lynch syndrome in suspected cases?

• A. Immunohistochemistry for mismatch repair proteins
• B. Cytogenetic analysis
• C. Complete blood count
• D. Serum tumor markers
• Answer: A. Immunohistochemistry for mismatch repair proteins

50.Which of the following cancers is NOT included in the Amsterdam II criteria for Lynch syndrome?

• A. Colorectal cancer
• B. Endometrial cancer
• C. Small bowel cancer
• D. Lung cancer
• Answer: D. Lung cancer