RCE - Common cancers

Question 1

Breast cancer (n=13)

Answer 1

BRCA1 (triple -, medullary)
BRCA2 (triple -)
PALB2 (triple -)
ATM

TP53 (triple +)
PTEN
NF1
NBN
Werner syndrome
Bloom syndrome

STK11 (infiltrating ductal and papillary)
CHEK2
CDH1 (lobular)

MNEMONIC:

• My girls are pals at the moment
• Cases from clinic (3) + others that tag along
• High heels; checkered sneakers
• Infiltrating pd
• Diaphragm close to the boob (lobular)

Question 2

Ovarian cancer (n=7)

Answer 2

BRCA1 (Papillary serous cystadenocarcinoma)
BRCA2 (Papillary serous cystadenocarcinoma)
BRIP1
Lynch (endometrioid/ clear cell)

RAD51C
RAD51D
STK11 (mostly SCTAT: Sex cord stromal tumor with annular tubules)

MNEMONIC:
- She was rad in her heels, may Lynch’s boobs RIP

Question 3

Prostate cancer (n=8)

Answer 3

BRCA1
BRCA2
BRIP1
Lynch

C = CHEK2
H = HOXB13
A = ATM
N = NBN

MNEMONIC:
- CHAN, may Lynch’s balls RIP

Question 4

Pancreatic cancer (n=7)

Answer 4

B = BRCA2 (>BRCA1); PALB2; 
A = ATM
S = STK11 
A = APC (low risk)
L = Lynch syndrome

MNEMONIC:
BASAL = Steve Job’s started at the bottom
B = My girls are pals at the moment

Question 5

Skin cancer (n=7)

Answer 5

X = Xeroderma pigmentosum
(B) = Bloom syndrome
(R) = RB1

B = BRCA2
C = Cowden (PTEN)
B = Birt Hogg Dube (melanoma)
G = Gorlin syndrome (BCC)

MNEMONICS:
X (BR) - BCBG

Question 6

Colorectal cancer / polyps (n=14)

Answer 6

MLH1, MSH2, MSH6, PMS2 (Lynch; adenocarcinoma)
Constitutional mismatch repair deficiency (CMMRD) syndrome
MSH3 (autosomal recessive)
MUTYH (autosomal recessive)

APC (FAP)
STK11 (PJS)
SMAD4 and BMPR1A (Juvenile polyposis syndrome)

PTEN
POLE
POLD1
GREM1
NTHL1
RNF43
Bloom syndrome

MNEMONICS:
First 7 are the ones we know.
STK11 (PJS) - like Jagger
SMAD4 and BMPR1A (JPS) - Sad 4 kids - baby mama pria

Next 7 = ten polyps (PTEN), polyp E, polyp D1, plant them in the ground (GREM1), NTHL1 (arabic to nurture), RNF43 (remember Noura Faisal); watch it bloom

Question 7

Thyroid cancer (n=5)

Answer 7

M = RET (causing MEN2; Medullary)
A = APC (cribriform-morular variant of Papillary)
P = PTEN (follicular >> papillary, Never medullary)

DICER1 (differentiated)

GPS = HPPS = Hereditary Paraganglioma-Pheochromocytoma Syndromes (Papillary)

MNEMONIC:
- The thyroid gland = MAP, and we have a DICER GPS.

Question 8

Endometrial cancer

Answer 8

PTEN
Lynch
POLD1

Question 9

Renal cancer

Answer 9

• PTEN (papillary)
• Hereditary Paraganglioma-Pheochromocytoma Syndromes (clear cell)
• VHL (clear cell)
• Hereditary leiomyomatosis and renal cell cancer (papillary type 2)
• BHD (chromophobe or oncocytic)
• TSC [epithelial (various) or mesenchymal (angiomyo-lipoma)]
• Hereditary papillary renal cell carcinoma
• Rhabdoid tumor predisposition syndrome

Question 10

Gastric cancer

Answer 10

Lynch (intestinal-type adenocarcinoma)
CDH1
APC
MSH3
STK11 / PJS
TP53
Carney complex

Question 11

Brain cancer

Answer 11

Gorlin (medulloblastoma)
Lynch (glioblastoma)
APC (medulloblastoma)
RB1 (PNET)
TSC
NF1
Bloom
NF2
Constitutional mismatch repair deficiency (CMMRD) syndrome
PTEN

Question 12

Lung cancer

Answer 12

STK11
TP53 (bronchoalveolar)
DICER1 (pleuropulmonary blastoma)

Question 13

Leukemia / lymphoma

Answer 13

TP53
Trisomy 21
RASopathies
Fanconi anemia
Bloom syndrome
ATM
Dyskeratosis congenita
Diamond-Blackfan anemia
Shwachman-Diamond
NF1
Constitutional mismatch repair deficiency (CMMRD) syndrome