ABGC BOARDS REVISION EXAM TEST 2025/2026
QUESTIONS WITH ANSWERS GRADED A+
✔✔Five syndromes with thyroid cancers and most common type for each - ✔✔MEN1
(papillary)
Carney complex (PRKAR1A, non-medullary)
Cowden (PTEN, follicular)
FAP (APC, non-medullary)
MEN2 (Medullary)
✔✔Skin cancer syndromes - ✔✔FAMMM (CDKN2A, CDK4)
Nevoid basal cell carcinoma (PTCH1)
Xeroderma Pigmentosum (XPs)
✔✔Pediatric tumor disposition cancer syndromes - ✔✔DICER
LFS (TP53)
hereditary retinoblastoma (RB1)
hereditary Wilms tumor (WTs)
✔✔Ataxia telengiectasia - ✔✔Gene: ATM
Inheritance: AR
Lifetime cancer risks: leukemia and solid tumors
- Carriers are at increased risk for breast cancer
Other symptoms:
Red spots on the skin (avoid sun exposure)
Progressive movement disorder/ ataxia
Some can have ID
✔✔Most common overgrowth syndrome - ✔✔Beckwith-Weidman syndrome (BWS)
✔✔Beckwith-Wiedemann syndrome causes - ✔✔CDKN1C on 11p15 (5-10%)
Paternal UPD 11p15 (10-20%)
Methylation 11p15 problems (50%)
✔✔Most common tumor with Beckwith-Wiedmann syndrome - ✔✔Wilms tumor: usually
in childhood
✔✔Bert-Hogg-Dube syndrome gene - ✔✔FLCN
✔✔Bert-Hogg-Dube syndrome cancer risk - ✔✔7X risk of kidney cancer
✔✔Bert-Hogg-Dube syndrome features other than cancer - ✔✔Spontaneous
pneumothorax
Fibrofolliculoma (pimples)
Skin tags
,pulmonary cysts
✔✔Bloom syndrome cause - ✔✔Gene: BLM
Increased sister chromatid exchange leading to chromosomal instability/breakage
✔✔Bloom syndrome cancer risks - ✔✔Acute leukemia, lymphoma and solid tumors
✔✔Bloom syndrome features other than cancer - ✔✔Facial rash - "butterfly patter"
Severe anemia
Infertility in males
Immunodeficiency
Growth delay
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) genes -
✔✔MLH1, MSH2, MSH6, PMS2, EPCAM
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) cancers -
✔✔Very early onset colon cancer
Leukemia and lymphoma
Childhood brain tumors
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) skin finding -
✔✔Cafe au lait spots
✔✔Cowden syndrome cancers - ✔✔Cerebellar dysplastic ganglioocytoma (rare benign
brain tumor)
Breast cancer (25-50%, @30-40s)
Thyroid cancer (10%) - usually follicular
Uterine cancer (5-10%)
✔✔Cowden syndrome features - ✔✔Trichilemomma and papillomatous papules
Mavrocephaly (100%)
✔✔DICER1 syndrome common cancer - ✔✔PPB (pleuropulmonary blastoma):
childhood lung cancer
✔✔DICER syndrome cancer risks - ✔✔PPB (pleuropulmonary blastoma): childhood
lung cancer
Ovarian tumors: Sertoli-leydig ovarian stromal tumors
Kidney tumors
Thyroid cancer nodules
Rhabdomyosarcomas
Pineoblastoma
20% cancer risks (could be 40% for females)
, Cancer risk is highest for children under 7
✔✔Dyskeratosis Congenita testing - ✔✔Telomere studies
✔✔Dyskkeratosis congenita features - ✔✔Bone marrow failure
Aplastic anemia
Nail dystrophy
Oral leukoplakia (white patches in the mouth)
Head and neck cancers
Pigmentation
✔✔Carney complex - ✔✔30% of males will develop testicular cancer: Leydig cell and
Large-cell calcifying Sertoli-Leydig cell
70% develop cardiac myxomas
Thyroid carcinoma
Spotty skin pigmentation
Blue nevus
Gene: PRKAR1A
✔✔FAP cancer risks - ✔✔More than 95% penetrance for colon cancer
Upper GI, duodenum: 4 - 12%
Desmoid: 10-20%
Osteoma: 20%
Papillary thyroid: 1-2%
Medulloblastoma
Hepatoblastoma (10% children with hepatoblastoma have FAP)
✔✔FAP features other than cancer - ✔✔CHRPE (Congenital hypertrophy of the retinal
pigment epithelium): Needs opthalmologic evaluation
Supernumery teeth
Epidermoid cysts
✔✔Garders syndrome - ✔✔Extracolonic features of FAP
✔✔Difference between AFAP AND FAP - ✔✔AFAP: mutations at 5' and 3' ends of APC
NO CHRPE
Later onset CRC
✔✔Gorlin syndrome (Nevoid basal cell carcinoma syndrome) most common gene -
✔✔PTCH1
✔✔Gorlin syndrome (Nevoid basal cell carcinoma syndrome) cancers - ✔✔Basal cell
carcinoma
Medulloblastoma
QUESTIONS WITH ANSWERS GRADED A+
✔✔Five syndromes with thyroid cancers and most common type for each - ✔✔MEN1
(papillary)
Carney complex (PRKAR1A, non-medullary)
Cowden (PTEN, follicular)
FAP (APC, non-medullary)
MEN2 (Medullary)
✔✔Skin cancer syndromes - ✔✔FAMMM (CDKN2A, CDK4)
Nevoid basal cell carcinoma (PTCH1)
Xeroderma Pigmentosum (XPs)
✔✔Pediatric tumor disposition cancer syndromes - ✔✔DICER
LFS (TP53)
hereditary retinoblastoma (RB1)
hereditary Wilms tumor (WTs)
✔✔Ataxia telengiectasia - ✔✔Gene: ATM
Inheritance: AR
Lifetime cancer risks: leukemia and solid tumors
- Carriers are at increased risk for breast cancer
Other symptoms:
Red spots on the skin (avoid sun exposure)
Progressive movement disorder/ ataxia
Some can have ID
✔✔Most common overgrowth syndrome - ✔✔Beckwith-Weidman syndrome (BWS)
✔✔Beckwith-Wiedemann syndrome causes - ✔✔CDKN1C on 11p15 (5-10%)
Paternal UPD 11p15 (10-20%)
Methylation 11p15 problems (50%)
✔✔Most common tumor with Beckwith-Wiedmann syndrome - ✔✔Wilms tumor: usually
in childhood
✔✔Bert-Hogg-Dube syndrome gene - ✔✔FLCN
✔✔Bert-Hogg-Dube syndrome cancer risk - ✔✔7X risk of kidney cancer
✔✔Bert-Hogg-Dube syndrome features other than cancer - ✔✔Spontaneous
pneumothorax
Fibrofolliculoma (pimples)
Skin tags
,pulmonary cysts
✔✔Bloom syndrome cause - ✔✔Gene: BLM
Increased sister chromatid exchange leading to chromosomal instability/breakage
✔✔Bloom syndrome cancer risks - ✔✔Acute leukemia, lymphoma and solid tumors
✔✔Bloom syndrome features other than cancer - ✔✔Facial rash - "butterfly patter"
Severe anemia
Infertility in males
Immunodeficiency
Growth delay
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) genes -
✔✔MLH1, MSH2, MSH6, PMS2, EPCAM
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) cancers -
✔✔Very early onset colon cancer
Leukemia and lymphoma
Childhood brain tumors
✔✔Constitutional mismatch repair (homozygous MMR gene deficiency) skin finding -
✔✔Cafe au lait spots
✔✔Cowden syndrome cancers - ✔✔Cerebellar dysplastic ganglioocytoma (rare benign
brain tumor)
Breast cancer (25-50%, @30-40s)
Thyroid cancer (10%) - usually follicular
Uterine cancer (5-10%)
✔✔Cowden syndrome features - ✔✔Trichilemomma and papillomatous papules
Mavrocephaly (100%)
✔✔DICER1 syndrome common cancer - ✔✔PPB (pleuropulmonary blastoma):
childhood lung cancer
✔✔DICER syndrome cancer risks - ✔✔PPB (pleuropulmonary blastoma): childhood
lung cancer
Ovarian tumors: Sertoli-leydig ovarian stromal tumors
Kidney tumors
Thyroid cancer nodules
Rhabdomyosarcomas
Pineoblastoma
20% cancer risks (could be 40% for females)
, Cancer risk is highest for children under 7
✔✔Dyskeratosis Congenita testing - ✔✔Telomere studies
✔✔Dyskkeratosis congenita features - ✔✔Bone marrow failure
Aplastic anemia
Nail dystrophy
Oral leukoplakia (white patches in the mouth)
Head and neck cancers
Pigmentation
✔✔Carney complex - ✔✔30% of males will develop testicular cancer: Leydig cell and
Large-cell calcifying Sertoli-Leydig cell
70% develop cardiac myxomas
Thyroid carcinoma
Spotty skin pigmentation
Blue nevus
Gene: PRKAR1A
✔✔FAP cancer risks - ✔✔More than 95% penetrance for colon cancer
Upper GI, duodenum: 4 - 12%
Desmoid: 10-20%
Osteoma: 20%
Papillary thyroid: 1-2%
Medulloblastoma
Hepatoblastoma (10% children with hepatoblastoma have FAP)
✔✔FAP features other than cancer - ✔✔CHRPE (Congenital hypertrophy of the retinal
pigment epithelium): Needs opthalmologic evaluation
Supernumery teeth
Epidermoid cysts
✔✔Garders syndrome - ✔✔Extracolonic features of FAP
✔✔Difference between AFAP AND FAP - ✔✔AFAP: mutations at 5' and 3' ends of APC
NO CHRPE
Later onset CRC
✔✔Gorlin syndrome (Nevoid basal cell carcinoma syndrome) most common gene -
✔✔PTCH1
✔✔Gorlin syndrome (Nevoid basal cell carcinoma syndrome) cancers - ✔✔Basal cell
carcinoma
Medulloblastoma
