ABGC Boards - Final Review Exams with Correct Answers
2 views 0 purchase
Course
ABGC Boards - Final Review
Institution
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
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller Gurustudy. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $9.70. You're not tied to anything after your purchase.
