ABGC Boards - Final Review Exams with Correct Answers
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ABGC Boards - Final Review
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ABGC Boards - Final Review
ABGC Boards - Final Review
Hereditary Breast and Ovarian Cancer - Answer-BRCA 1/2
Breast 50-87%
Second primary tumor 50-64%
BRCA 1: 20-45% BRCA 2: 10-30%
BRCA 2: Male breast 6-10%
Li-Fraumeni Syndrome - Answer--Sarcoma, breast, leukemia, adrenal and many others
-May present in almost ev...
ABGC Boards - Final Review
Hereditary Breast and Ovarian Cancer - Answer-BRCA 1/2
Breast 50-87%
Second primary tumor 50-64%
BRCA 1: 20-45% BRCA 2: 10-30%
BRCA 2: Male breast 6-10%
Li-Fraumeni Syndrome - Answer--Sarcoma, breast, leukemia, adrenal and many
others
-May present in almost every way (ie all family members with same cancers or all
with different)
-Adrenocortical carcinoma considered pathognomonic
-50% have some type by 30, 90% by age 60
-TP53 accounts for 70% of individuals
Beckwith-Wiedemann - Answer-Overgrowth disorder in children, tongue, viscera,
hemihyperplasia, abdominal wall defects, ear pits and creases. Pancreatic
hyperplasia leads to neonatal hypoglycemia and MR
Airway and feeding difficulties,
Methylation abnormalities/imprinting disorder 11p15.5 (need mom, dad is shut off)
hepatoblastoma - Answer-malignant liver tumor, most common primary liver
malignancy in children, associated with BWS
Wilms tumor - Answer-AKA kidney tumor, associated with BWS
oncogene - Answer-A gene having the potential to cause a normal cell to become
cancerous.
Lynch Syndrome - Answer-cancer predisposition syhndrome affecting increased 50-
80% risk for colon cancer before age 50
caused by germline pathogenic variant in one of four mismatch repair genes (MMR)
-MSH2
-MSH6
-MLH1
-PMS2
MLH1 and MSH2 variants account for approximately 90% of pathogenic variants
-Germline deletions in EPCAM inactivate MSH2
,Adrenocortical carcinoma - Answer-Cancer of the outer layer of the adrenal glands,
commonly associated with Li-Fraumeni Syndrome
1.) MSI/MMR histochemistry (MSH2/MSH6 complexes, where MSH6 is absent if
MSH2 is), (MLH1/PMS2 complexes where PMS2 is absent if MLH1 is absent)
-MSH2 causes loss of MSH6
-MLH1 causes loss of PMS2
2.) BRAF (sporadic)
3.) If BRAF neg, methylation neg, proceed to MMR genetic testing - Answer-What is
the testing algorithm for lynch syndrome?
Familial adenomatous polyposis - Answer-Onset with hundreds of polyps forming in
colon and rectum (at least 10-20 cumulative)
-Mostly inherited
-Classic (polyps at age 16) Cancer by 50 vs Attenuated (start of disease later in life
and fewer than 100 polyps develop)
-Hepatboblastoma
-Desmoid tumor
-Genetic testing of APC gene
Cowden Syndrome - Answer-Lifetime risk of ~35% to develop thyroid cancer,
associations with benign thyroid disease (adenoma, multinodular goitar)
Other cancers and family history clues: breast cancer, endometrial cancer, follicular
thyroid cancer, GI hamartomas, macrocephaly, mucocutaneous lesions, macular
pimentation, autism, colon cancer, lipomas, renal cell carcinoma, intellectual
disability, vascular anomalies
Gene involved: PTEN
hamartoma - Answer-mostly benign, focal malformation that resembles a neoplasm
in the tissue of its origin. This is not a malignant tumor, it grows at the same rate as
the surrounding tissue. It is composed of tissue elements normally found at that site,
but they are growing in a disorganized manner.
RET testing offered to all patients with medullary thyroid cancer
Pheochromocytoma - Answer-tumor of the adrenal medulla tissue characterized by
increased formation of catecholamines
,Multiple Endocrine Neoplasia Type 2A - Answer-Diagnosed by 2 or more endocine
tumors in a single person or in close relatives
-95% lifetime risk for medullary thyroid cancer, average diagnosis in late teens with
1/2 having lymph node metastases at diagnosis
-Half the time includes pheochromocytomas
-Parathryoid adenoma or hyperplasia
Multiple Endocrine Neoplasia Type 2B - Answer--Early and very aggressive
medullary thyroid cancer (100% lifetime risk)
-causes multiple tumors on the mouth, eyes, and endocrine glands
-Most often de novo
Peutz-Jeghers Syndrome - Answer--Mostly benign Hamartomatous polyposis,
develop hamartomas in the small intestine (and other places) (colorectal, gastric,
pancreatic, breast, and ovarian cancers)
-Hyperpigmented macules on the mouth and hands
-1/3 of children have symptomatic GI polyps before age 10
-Caused by STK11 (considered a breast cancer gene)
MAP (MYH associated polyposis) - Answer-Greatly increased risk of colorectal
cancer (43%-100%), associated with ten to a few hundred colonic adematous polyps
that are evident at mean age of about 50 years
-Between 1-10 polyps under age 40
-More than 10 between age 40-60
-More than 20 over 60
Autosomal recessive inheritance with common biallelic inheritance (test parents) in
MYH gene
low MSI instability
CHECK2 - Answer-DNA repair gene that helps regulate BRCA1, modified Br Ca risk
1.5-3x gen population
Others: colon, prostate, male breast,
NBN - Answer-Forms complex with RAD50 which then interacts with ATM, increased
cancer risks including brearst cancer
BARD1 - Answer-gene mutation found in families that look like HBOC but dont have
BRCA1/2 mutations, women with mutation have increased risk for breast cancer
BRIP1 - Answer-gene with increased ovarian cancer risk, uncertain risk increase for
breast ca
, AR disease: Fanconi Anemia
Hereditary Diffuse Gastric Cancer Syndrome - Answer-High risk for diffuse type
gastric cancer and lobular type breast cancer (56% to age 80 for men, 70% for men,
family history pattern is positive
Gene involved: CDH1 (e-cadherin protein)
PALB2 - Answer-Partner and localizer of BRCA2, risk for breast cancer higher
AR disease: Fanconi Anemia
Fanconi anemia - Answer-physical abnormalities (ss, skin pigmentation, skeletal
malformation ) , bone marrow failure, increased risk of malignancy (AML, solid
tumors of head and neck)
-Biallelic pathogenic variants in 18 genes (AR)
-heterozygous pathogenic variant in RAD51 (AD)
-hemizygous pathogenic variant in FANCB (XLD)
B-ALL - Answer-recurrent cytogenetic abnormalities associated with this type of ca
Acute-Promyletoic leukemia - Answer-PML/RARA fusion involved with this type of
cytogenetic cancer
CML - Answer-What cancer is the philadelphia chromosome responsible for creating
t(9;22) present in 95% that has BCR/ABL fusion
Oncogene - Answer-Arise from proto-oncogenes, which regulate cell signalling;
Constitutive activation of these proto-oncogenes leads to tumors;
Most often point mutations, but may be gene amplification, chromosome
rearrangement (ex. BCR-ABL), viral insertion (ex. HPV);
Ex. RET (MEN2)
Tumor suppressor gene - Answer-Responsible for halting growth of damaged cells;
Inactivation of these genes may lead to tumors (two-hit hypothesis);
Ex. most hereditary cancer genes (BRCA1/2, NF1, APC)
Mismatch repair gene - Answer-Identifies and repairs DNA errors made during
replication;
Gatekeepers and caretakers;
Ex. Xeroderma pigmentosum, ATM, Lynch genes
Incidence - Answer-Number of new cases of a disease per year
Prevalance - Answer-Total number of cases in the population
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