Syndromes

Question 1

HBOC

Answer 1

BRCA1/2
Breast, Ovarian, Fallopian tube, peritoneal, type I and II endometrial, prostate, pancreas, melanoma

Question 2

Lynch (HNPCC)

Answer 2

MLH1,MSH2,MSH6,PMS2, EPCAM
All AD
CRC, endometrial, ovarian, breast, gastric, pancreas, bladder, biliary tract, urothelial, small bowel, prostate, brain, CNS

Question 3

Bloom’s syndrome

Answer 3

BLM (AR)
Wilms tumor; Small and large intestine carcinomas, skin carcinomas, upper GI and respiratory tract carcinomas; lymphomas; leukemia

Question 4

Fanconi Anemia

Answer 4

AR: FANCA, (60-70%) BRCA2, BRIP1, PALB2.. So many more FANC variants

RAD51 (AD; de novo)
FANCB (X linked)

Acute myeloid leukemia
Head and neck squamous cell carcinoma
Oral cavity
Vulvar cancer
Esophagus
GI tract
Anal cancer

Question 5

Ataxia Telangiectasia

Answer 5

ATM
(AR)
lymphoma , leukemia, in childhood
Adults: breast, ovarian, gastric, melanoma, leiomyomas, sarcomas
Carriers still have increased risk for breast cancer

Question 6

HDGCS

Answer 6

CDH1
Gastric Cancer, breast

Question 7

Neurofibromatosis Type 1

Answer 7

NF1; Brain, breast, leukemia, gastrointestinal stromal tumors, paragangliomas, and pheochromocytomas

Question 8

Cowden

Answer 8

PTEN
Breast, Thyroid, Kidney, Uterine/Endometrial, CRC, melanoma

Question 9

Peutz-Jeghers

Answer 9

STK11
Breast, CRC, Pancreatic, Stomach, ovarian, lung, small intestine, cervical, uterine, testicular

Question 10

Li-Fraumeni

Answer 10

TP53
Breast, CRC, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, brain, sarcoma, leukemia, lymphoma

Question 11

Familial Adenomatous Polyposis

Answer 11

APC (AD), MUTYH (AR)
CRC, stomach, small intestine, pancreas, biliary tract, hepatoblastoma (kids), papillary thyroid cancer

100s of polyps

Question 12

Hereditary Melanoma

Answer 12

BAP1, BRCA2, CDK4, CDKN2A,MITF, PTEN, RB1
Melanoma

Question 13

Gorlin syndrome

Answer 13

PTCHI, SUFU
(AD)

HUNDREDS Basal cell carcinoma, medulloblastoma, facies, jaw keratocysts, ovarian fibromas, cardiac fibromas

Question 14

Xeroderma pigmentosum

Answer 14

(AR)
XPA!!!!!!!
DDB2, ERCC1, ERCC2,ERCC3,ERCC4,ERCC5,POLH, XPA, XPC
Basal cell carcinomas, squamous cell carcinomas

Question 15

Multiple Endocrine Neoplasia Type 1

Answer 15

MEN1 (AD)
Parathyroid, Pancreas, Pituitary

Question 16

Multiple Endocrine Neoplasia Type 2

Answer 16

RET (AD)
Medullary Thyroid, pheochromocytoma

Question 17

Von Hippel -Lindau Syndrome

Answer 17

VHL (AD)
Kidney, Brain, spinal cord, retina

Question 18

WAGR

Answer 18

Deletion in WT1 + PAX6
Wilms Tumor, Aniridia, Genitourinary anomaly, mental Retardation

Question 19

Beckwith- Weidemen

Answer 19

Deletion by 11p15.5
10-15% CDKN1C
Wilms
UPD-maternal involvement

Question 20

Tuberous Sclerosis Complex

Answer 20

TSC1, TSC2
(AD) ⅔ cases de novo
CNS tumors, Kidney cancer, lung disease
“Not always on panels, but highly penetrant”