ABGC Boards Final Exam Review With 100% Correct And Verified Answers 2025

ABGC Boards Final Exam Review With 100%
Correct And Verified Answers 2025
HereditaryTBreastTandTOvarianTCancerT-TCorrectTAnswer-BRCAT1/2
BreastT50-87%
SecondTprimaryTtumorT50-64%
BRCAT1:T20-45%TBRCAT2:T10-30%
BRCAT2:TMaleTbreastT6-10%

Li-FraumeniTSyndromeT-TCorrectTAnswer--
Sarcoma,Tbreast,Tleukemia,TadrenalTandTmanyTothersT
-
MayTpresentTinTalmostTeveryTwayT(ieTallTfamilyTmembersTwithTsameTcancersTorTallTwi
thTdifferent)T
-AdrenocorticalTcarcinomaTconsideredTpathognomonic
-50%ThaveTsomeTtypeTbyT30,T90%TbyTageT60T
-TP53TaccountsTforT70%TofTindividuals

Beckwith-WiedemannT-TCorrectTAnswer-
OvergrowthTdisorderTinTchildren,Ttongue,Tviscera,Themihyperplasia,TabdominalTwallTde
fects,TearTpitsTandTcreases.TPancreaticThyperplasiaTleadsTtoTneonatalThypoglycemiaTa
ndTMR
AirwayTandTfeedingTdifficulties,T
MethylationTabnormalities/imprintingTdisorderT11p15.5T(needTmom,TdadTisTshutToff)T

-
ChildhoodTembryonalTtumorsT(7.5%),TWilmsT(Kidney),Thepatoblastoma,Tneuroblastom
a,Trhabdomyosarcoma

hepatoblastomaT-TCorrectTAnswer-
malignantTliverTtumor,TmostTcommonTprimaryTliverTmalignancyTinTchildren,Tassociated
TwithTBWS


WilmsTtumorT-TCorrectTAnswer-AKATkidneyTtumor,TassociatedTwithTBWS

oncogeneT-TCorrectTAnswer-
ATgeneThavingTtheTpotentialTtoTcauseTaTnormalTcellTtoTbecomeTcancerous.

LynchTSyndromeT-TCorrectTAnswer-
cancerTpredispositionTsyhndromeTaffectingTincreasedT50-
80%TriskTforTcolonTcancerTbeforeTageT50

causedTbyTgermlineTpathogenicTvariantTinToneTofTfourTmismatchTrepairTgenesT(MMR)T

-MSH2

,-MSH6

-MLH1
-PMS2

MLH1TandTMSH2TvariantsTaccountTforTapproximatelyT90%TofTpathogenicTvariantsT

-GermlineTdeletionsTinTEPCAMTinactivateTMSH2

AdrenocorticalTcarcinomaT-TCorrectTAnswer-
CancerTofTtheTouterTlayerTofTtheTadrenalTglands,TcommonlyTassociatedTwithTLi-
FraumeniTSyndrome

1.)TMSI/MMRThistochemistryT(MSH2/
MSH6Tcomplexes,TwhereTMSH6TisTabsentTifTMSH2Tis),T(MLH1/
PMS2TcomplexesTwhereTPMS2TisTabsentTifTMLH1TisTabsent)

-MSH2TcausesTlossTofTMSH6
-MLH1TcausesTlossTofTPMS2

2.)TBRAFT(sporadic)
3.)TIfTBRAFTneg,TmethylationTneg,TproceedTtoTMMRTgeneticTtestingT-TCorrectTAnswer-
WhatTisTtheTtestingTalgorithmTforTlynchTsyndrome?

FamilialTadenomatousTpolyposisT-TCorrectTAnswer-
OnsetTwithThundredsTofTpolypsTformingTinTcolonTandTrectumT(atTleastT10-
20Tcumulative)
-MostlyTinherited
-
ClassicT(polypsTatTageT16)TCancerTbyT50TvsTAttenuatedT(startTofTdiseaseTlaterTinTlifeT
andTfewerTthanT100TpolypsTdevelop)T
-Hepatboblastoma
-DesmoidTtumorT
-GeneticTtestingTofTAPCTgene

CowdenTSyndromeT-TCorrectTAnswer-
LifetimeTriskTofT~35%TtoTdevelopTthyroidTcancer,TassociationsTwithTbenignTthyroidTdis
easeT(adenoma,TmultinodularTgoitar)

OtherTcancersTandTfamilyThistoryTclues:TbreastTcancer,TendometrialTcancer,TfollicularTt
hyroidTcancer,TGIThamartomas,Tmacrocephaly,TmucocutaneousTlesions,TmacularTpime
ntation,Tautism,TcolonTcancer,Tlipomas,TrenalTcellTcarcinoma,TintellectualTdisability,Tvas
cularTanomalies

GeneTinvolved:TPTEN

,hamartomaT-TCorrectTAnswer-
mostlyTbenign,TfocalTmalformationTthatTresemblesTaTneoplasmTinTtheTtissueTofTitsTorig
in.TThisTisTnotTaTmalignantTtumor,TitTgrowsTatTtheTsameTrateTasTtheTsurroundingTtissu
e.TItTisTcomposedTofTtissueTelementsTnormallyTfoundTatTthatTsite,TbutTtheyTareTgrowin
gTinTaTdisorganizedTmanner.

MultipleTEndocrineTNeoplasiaTTypeT2T-TCorrectTAnswer-
MedullaryTthyroidTcancerTrisk,Tpheochromocytomas,THyperparathroidismT(elevatedTblo
odTcalcium,Thypercalcemia=osteoporosis,TkidneyTstones,Tfatigue,TgeneralizedTaches,T
depression,TimpairedTconcentration,Tconstipation,Thypertension)

-MEN2A
-MEN2B
-FMTC

RETTtestingTofferedTtoTallTpatientsTwithTmedullaryTthyroidTcancer

PheochromocytomaT-TCorrectTAnswer-
tumorTofTtheTadrenalTmedullaTtissueTcharacterizedTbyTincreasedTformationTofTcatechol
amines

MultipleTEndocrineTNeoplasiaTTypeT2AT-TCorrectTAnswer-
DiagnosedTbyT2TorTmoreTendocineTtumorsTinTaTsingleTpersonTorTinTcloseTrelatives
-
95%TlifetimeTriskTforTmedullaryTthyroidTcancer,TaverageTdiagnosisTinTlateTteensTwithT1
/2ThavingTlymphTnodeTmetastasesTatTdiagnosisT
-HalfTtheTtimeTincludesTpheochromocytomasT
-ParathryoidTadenomaTorThyperplasia

MultipleTEndocrineTNeoplasiaTTypeT2BT-TCorrectTAnswer--
EarlyTandTveryTaggressiveTmedullaryTthyroidTcancerT(100%TlifetimeTrisk)T
-causesTmultipleTtumorsTonTtheTmouth,Teyes,TandTendocrineTglands
-MostToftenTdeTnovo

Peutz-JeghersTSyndromeT-TCorrectTAnswer--
MostlyTbenignTHamartomatousTpolyposis,TdevelopThamartomasTinTtheTsmallTintestineT
(andTotherTplaces)T(colorectal,Tgastric,Tpancreatic,Tbreast,TandTovarianTcancers)
-HyperpigmentedTmaculesTonTtheTmouthTandThandsT
-1/3TofTchildrenThaveTsymptomaticTGITpolypsTbeforeTageT10T
-CausedTbyTSTK11T(consideredTaTbreastTcancerTgene)

MultipleTEndocrineTNeoplasiaTTypeT1T-TCorrectTAnswer-1.)THyperparathyroidismT
2.)TPancreatic/GastricTtumorsT
3.)TBenignTpituitaryTtumorsT(controlsTGH,TTSH,TProlactin)

, MAPT(MYHTassociatedTpolyposis)T-TCorrectTAnswer-
GreatlyTincreasedTriskTofTcolorectalTcancerT(43%-
100%),TassociatedTwithTtenTtoTaTfewThundredTcolonicTadematousTpolypsTthatTareTevid
entTatTmeanTageTofTaboutT50TyearsT

-BetweenT1-10TpolypsTunderTageT40T
-MoreTthanT10TbetweenTageT40-60
-MoreTthanT20ToverT60T

AutosomalTrecessiveTinheritanceTwithTcommonTbiallelicTinheritanceT(testTparents)TinTM
YHTgeneT

lowTMSITinstability

CHECK2T-TCorrectTAnswer-
DNATrepairTgeneTthatThelpsTregulateTBRCA1,TmodifiedTBrTCaTriskT1.5-
3xTgenTpopulationT

Others:Tcolon,Tprostate,TmaleTbreast,

NBNT-TCorrectTAnswer-
FormsTcomplexTwithTRAD50TwhichTthenTinteractsTwithTATM,TincreasedTcancerTrisksTi
ncludingTbrearstTcancer

BARD1T-TCorrectTAnswer-
geneTmutationTfoundTinTfamiliesTthatTlookTlikeTHBOCTbutTdontThaveTBRCA1/2Tmutatio
ns,TwomenTwithTmutationThaveTincreasedTriskTforTbreastTcancer

BRIP1T-TCorrectTAnswer-
geneTwithTincreasedTovarianTcancerTrisk,TuncertainTriskTincreaseTforTbreastTcaT

ARTdisease:TFanconiTAnemia

HereditaryTDiffuseTGastricTCancerTSyndromeT-TCorrectTAnswer-
HighTriskTforTdiffuseTtypeTgastricTcancerTandTlobularTtypeTbreastTcancerT(56%TtoTageT
80TforTmen,T70%TforTmen,TfamilyThistoryTpatternTisTpositiveT

GeneTinvolved:TCDH1T(e-cadherinTprotein)

PALB2T-TCorrectTAnswer-
PartnerTandTlocalizerTofTBRCA2,TriskTforTbreastTcancerThigher

ARTdisease:TFanconiTAnemia