Common cancers

Question 1

High risk Breast cancer n=7

Answer 1

BRCA1 (triple -, medullary)
BRCA2 (triple -)
TP53 (phylloides -triple +)
PTEN (ductal)
CDH1 (lobular)
STK11 (infiltrating ductal and papillary)
PALB2 (triple -)

Question 2

Ovarian cancer n=8

Answer 2

BRCA1 (Papillary serous cystadenocarcinoma) (RRSO 35-50)

BRCA2 (Papillary serous cystadenocarcinoma) (RRSO 40-45)

Lynch (endometrioid/clear cell) (RRSO after child bearing)

RAD51C (RRSO 45-50)

RAD51D(RRSO 45-50)

BRIP1 (RRSO 45-50)

STK11 (mostly SCTAT -Sex cord stromal tumor with annular tubules)

ATM (potential high risk)

(Gorlin = ovarian fibroma)

Question 3

Prostate cancer (n = 6)

Answer 3

BRCA2 (PSA screen)
BRCA1
Lynch
CHEK2
ATM
NBN

Question 4

Pancreatic cancer (n= 10)

Answer 4

BRCA2 
PALB2
Lynch
STK11
APC (low risk)
VHL (pNET)
ATM
MEN1 (pancreatic neuroendocrine)
CF
CDKN2A FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME (FAMMM)-

Question 5

Skin cancer n=8

Answer 5

Xeroderma pigmentosum (SCC, BCC, melanoma)
BRCA2 (melanoma)
PTEN (melanoma)
RB1 (melanoma)
Birt Hogg Dube (melanoma)
CDKN2A  (FAMMM)
Bloom syndrome (BCC)
Gorlin syndrome (BCC)

Question 6

Colorectal cancer / polyps n =14

Answer 6

MLH1, MSH2, MSH6, PMS2 (Lynch; adenocarcinoma)
CMMRD

STK11 (PJS)
APC (FAP)
SMAD4 and BMPR1A (Juvenile polyposis syndrome)
PTEN
MUTYH (autosomal recessive)
NTHL1
POLE
POLD1
GREM1 (Mixed- AJ)
MSH3 (autosomal recessive)
Bloom syndrome
RNF43 (sessile serated polyposis)

Question 7

Thyroid cancer to adjust n=5

Answer 7

PTEN (follicular&raquo_space; papillary, never medullary)
RET (causing MEN2; medullary)
APC (cribriform-morular variant of papillary)
Hereditary Paraganglioma-Pheo Syndromes (papillary)
DICER1 (differentiated)
Werner (papillary)

Question 8

Endometrial cancer n=3

Answer 8

Lynch
PTEN
POLD1

Question 9

Renal cell carcinoma with path (n = 7)

Answer 9

VHL (clear cell)

Hereditary papillary renal cell carcinoma (Type 1 papillary)

Hereditary leiomyomatosis and renal cell cancer (Type 2 papillary)

BHD (chromophobe or oncocytic)

SDHB (D) (clear cell/variable)

PTEN (papillary)

BAP1 (clear cell/variable)

Question 10

Gastric cancer n = 9

Answer 10

CDH1
Lynch (intestinal-type adenocarcinoma)
FAP-APC
PJS-STK11
CMMRD
BRCA2
MSH3
TP53
Carney complex (gastric stromal sarcoma)

Question 11

Brain cancer (not medulloblastoma) n=5

Answer 11

Constitutional mismatch repair deficiency (CMMRD) Lynch (glioblastoma)
Li fraumeni (choroid plexus carcinoma)
PTEN (Lhermitte-Duclos disease)
RB1 (PNET)
TSC (glioma)
NF1
NF2
VHL (brain hemangioblastoma)

Question 12

Lung cancer n =5

Answer 12

STK11
TP53 (bronchoalveolar)
DICER1 (pleuropulmonary blastoma)
RB1
VHL (lung hemangioma)

Question 13

Leukemia / lymphoma n=12

Answer 13

TP53
Trisomy 21
ATM
(CMMRD) 
Fanconi anemia
Bloom syndrome
Dyskeratosis congenita
Diamond-Blackfan anemia
Shwachman-Diamond
NF1
RASopathies
Dubowitz

Question 14

Moderate risk Breast cancer

Answer 14

NF1 (screen 30)
CHEK2 (screen 40)
ATM (screen 40)
NBN (Nijemen Breakgage) (screen 40)
Bloom syndrome
Werner syndrome
MLH1- lynch (no screen)
PIK3CA
MRE11 (AT like)

Question 15

Other types of renal cancer/lesion (not RCC) n=5

Answer 15

TSC [epithelial (various) or mesenchymal (angiomyo-lipoma)]
Rhabdoid tumor predisposition syndrome
CDC73 - renal harmatoma- hyperparathyroid-jaw
Lynch- transitional cell tumours ureter/renal pelvis
Li-Fraumeni (TP53) - wilms tumour

Question 16

Sertoli cell tumor

Answer 16

Carney complex (calcifying)
Peutz Jeghers Calcifying)
DICER – (Sertoli-Leydig)