Cancer Genetics GI Quiz

What is the most common inherited form of colorectal cancer?

• A) Familial Adenomatous Polyposis (FAP)

• B) Lynch Syndrome

• C) Peutz-Jeghers Syndrome

• D) Juvenile Polyposis Syndrome

B) Lynch Syndrome

At what age does the American Cancer Society recommend starting regular colorectal cancer screening for individuals at average risk?

• A) 35 years

• B) 40 years

• C) 45 years

• D) 50 years

C) 45 years

Which gene is NOT associated with Lynch syndrome?

• A) MLH1

• B) MSH2

• C) APC

• D) PMS2

C) APC

What type of polyps are most commonly precancerous and account for approximately 70% of all colorectal polyps?

• A) Hyperplastic polyps

• B) Adenomatous polyps

• C) Inflammatory polyps

• D) Hamartomatous polyps

B) Adenomatous polyps

Which of the following is a hallmark feature of Lynch syndrome tumors?

• A) High microsatellite instability (MSI-H)

• B) Low microsatellite instability (MSI-L)

• C) Microsatellite stable (MSS)

• D) High chromosomal instability (CIN)

A) High microsatellite instability (MSI-H)

Which syndrome is characterized by sebaceous neoplasms and one or more Lynch syndrome-associated cancers?

• A) Turcot syndrome

• B) Muir-Torre syndrome

• C) Peutz-Jeghers syndrome

• D) Juvenile Polyposis Syndrome

B) Muir-Torre syndrome

What is the recommended screening method for individuals at high risk for colorectal cancer due to Lynch syndrome?

• A) Stool-based tests

• B) Colonoscopy

• C) CT colonography

• D) Sigmoidoscopy

B) Colonoscopy

Which protein complex is formed by the MLH1 protein in the mismatch repair system?

• A) MLH1-MSH2

• B) MLH1-PMS2

• C) MSH2-MSH6

• D) MSH2-PMS2

B) MLH1-PMS2

What is the estimated population prevalence of Lynch syndrome?

• A) 1 in 100

• B) 1 in 279

• C) 1 in 500

• D) 1 in 1000

B) 1 in 279

Which gene mutation is associated with Hereditary Diffuse Gastric Cancer (HDGC)?

• A) APC

• B) CDH1

• C) MLH1

• D) MSH6

B) CDH1

What percentage of colorectal cancers are attributed to strong hereditary components?

• A) 1-2%

• B) 5-10%

• C) 15-20%

• D) 25-30%

B) 5-10%

Which type of colorectal polyp is generally small and low-risk but may be a concern if large or numerous?

• A) Tubular adenomas

• B) Villous adenomas

• C) Hyperplastic polyps

• D) Sessile serrated lesions

C) Hyperplastic polyps

Which gene is associated with Lynch syndrome and is located upstream from MSH2?

• A) MLH1

• B) PMS2

• C) EPCAM

• D) MSH6

C) EPCAM

What is the recommended screening frequency for individuals at high risk for colorectal cancer due to Lynch syndrome?

• A) Every 1-2 years

• B) Every 3-5 years

• C) Every 5-10 years

• D) Every 10-15 years

B) Every 3-5 years

Which syndrome is characterized by a predisposition to hamartomatous polyps in the gastrointestinal tract and increased risk for colorectal, gastric, and pancreatic cancers?

• A) Familial Adenomatous Polyposis (FAP)

• B) Peutz-Jeghers Syndrome (PJS)

• C) Juvenile Polyposis Syndrome (JPS)

• D) MUTYH-Associated Polyposis Syndrome (MAP)

B) Peutz-Jeghers Syndrome (PJS)

Which type of colorectal polyp is associated with a higher risk of progression to colorectal cancer, especially if dysplasia is present?

• A) Hyperplastic polyps

• B) Sessile serrated lesions

• C) Tubular adenomas

• D) Villous adenomas

B) Sessile serrated lesions

What is the recommended screening frequency for individuals over age 85 for colorectal cancer?

• A) Every 1-2 years

• B) Every 3-5 years

• C) Every 5-10 years

• D) Screening is not recommended

D) Screening is not recommended

Which gene is associated with Constitutional Mismatch Repair Deficiency (CMMRD) syndrome?

• A) APC

• B) MLH1

• C) CDH1

• D) STK11

B) MLH1

What is the primary diagnostic procedure that allows examination of the entire length of the large intestine?

• A) Sigmoidoscopy

• B) CT Colonoscopy

• C) Colonoscopy

• D) Stool DNA test

C) Colonoscopy

Which syndrome is characterized by a predisposition to hamartomatous polyps in the gastrointestinal tract and increased risk for colorectal, gastric, and pancreatic cancers?

• A) Familial Adenomatous Polyposis (FAP)

• B) Peutz-Jeghers Syndrome (PJS)

• C) Juvenile Polyposis Syndrome (JPS)

• D) MUTYH-Associated Polyposis Syndrome (MAP)

B) Peutz-Jeghers Syndrome (PJS)

Which gene mutation is associated with Hereditary Diffuse Gastric Cancer (HDGC)?

• A) APC

• B) CDH1

• C) MLH1

• D) MSH6

B) CDH1

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

• A) MLH1

• B) APC

• C) MSH2

• D) STK11

B) APC

What is the average age of polyp diagnosis in individuals with classic FAP?

• A) 10 years

• B) 16 years

• C) 25 years

• D) 35 years

B) 16 years

Which type of thyroid carcinoma is most commonly associated with FAP?

• A) Papillary thyroid carcinoma (PTC)

• B) Follicular thyroid carcinoma (FTC)

• C) Medullary thyroid carcinoma (MTC)

• D) Anaplastic thyroid carcinoma (ATC)

A) Papillary thyroid carcinoma (PTC)

What percentage of individuals with FAP develop colorectal cancer by age 50 if untreated?

• A) 50%

• B) 70%

• C) 87%

• D) 93%

D) 93%

Which non-malignant feature is reported in up to 80% of individuals with FAP?

• A) Osteomas

• B) Dental abnormalities

• C) Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE)

• D) Desmoid tumors

C) Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE)

What is the inheritance pattern of MUTYH-Associated Polyposis Syndrome (MAP)?

• A) Autosomal Dominant

• B) Autosomal Recessive

• C) X-linked

• D) Mitochondrial

B) Autosomal Recessive

Which gene is associated with Peutz-Jeghers Syndrome (PJS)?

• A) APC

• B) STK11

• C) BMPR1A

• D) SMAD4

B) STK11

What type of polyps are characteristic of Peutz-Jeghers Syndrome?

• A) Adenomatous polyps

• B) Hyperplastic polyps

• C) Hamartomatous polyps

• D) Inflammatory polyps

C) Hamartomatous polyps

Which syndrome is characterized by a predisposition to hamartomatous polyps in the gastrointestinal tract?

• A) Familial Adenomatous Polyposis (FAP)

• B) Peutz-Jeghers Syndrome (PJS)

• C) Juvenile Polyposis Syndrome (JPS)

• D) MUTYH-Associated Polyposis Syndrome (MAP)

C) Juvenile Polyposis Syndrome (JPS)

Which gene is associated with Juvenile Polyposis Syndrome (JPS)?

• A) APC

• B) STK11

• C) BMPR1A

• D) MUTYH

C) BMPR1A

Which syndrome is characterized by hundreds to thousands of adenomatous colonic polyps?

• A) Peutz-Jeghers Syndrome (PJS)

• B) Juvenile Polyposis Syndrome (JPS)

• C) Familial Adenomatous Polyposis (FAP)

• D) MUTYH-Associated Polyposis Syndrome (MAP)

C) Familial Adenomatous Polyposis (FAP)

What is the mutation de novo rate for APC-associated polyposis conditions?

• A) 5-10%

• B) 10-15%

• C) 20-25%

• D) 30-35%

C) 20-25%

Which non-malignant feature of FAP involves benign fibrous tumors that are locally invasive but do not metastasize?

• A) Osteomas

• B) Dental abnormalities

• C) Desmoid tumors

• D) Adrenal masses

C) Desmoid tumors

What is the average age of colorectal cancer diagnosis in individuals with attenuated FAP (AFAP)?

• A) 30-35 years

• B) 40-45 years

• C) 50-55 years

• D) 60-65 years

C) 50-55 years

Which gene is associated with Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)?

• A) APC

• B) STK11

• C) BMPR1A

• D) SMAD4

D) SMAD4

What type of polyps are characteristic of MUTYH-Associated Polyposis Syndrome (MAP)?

• A) Adenomatous polyps

• B) Hyperplastic polyps

• C) Hamartomatous polyps

• D) Serrated polyps

D) Serrated polyps

Which syndrome is characterized by dark blue or brown moles around or in the mouth and around the eyes, nostrils, and anus?

• A) Familial Adenomatous Polyposis (FAP)

• B) Peutz-Jeghers Syndrome (PJS)

• C) Juvenile Polyposis Syndrome (JPS)

• D) MUTYH-Associated Polyposis Syndrome (MAP)

B) Peutz-Jeghers Syndrome (PJS)

What is the cumulative risk for colorectal cancer by age 80 years in individuals with attenuated FAP (AFAP)?

• A) 50%

• B) 60%

• C) 70%

• D) 80%

C) 70%

Which gene is associated with Hereditary Mixed Polyposis Syndrome (HMPS)?

• A) GREM1

• B) POLE

• C) POLD1

• D) AXIN2

A) GREM1