Candidly Cancer

Question 1

Mismatch repair genes

Answer 1

MLH1, MSH2, MSH6, PMS2

Question 2

Lynch genes

Answer 2

MLH1, MSH2, MSH6, PMS2, EPCAM

Question 3

Lynch Cancer risks

Answer 3

Colon, endometrial, ovarian, stomach, urothelial, glioblastoma, skin, pancreas, prostate

Question 4

Balletic pathogenic variants in MMR genes cause…

and cancer risks…

Answer 4

Constitutional mismatch repair deficiency (CMMRD)

Childhood predisposition: CRC (w/ polyps), brain, blood (leukemia or lymphoma); 100% penetrance by 18y

Question 5

Skin manifestations of CMMRD

Answer 5

Cafe au lait; freckling or hypopigmentation

Question 6

Subset of Lynch syndrome + skin findings

MOI: common genes

Answer 6

Muir-Torre syndrome: sebaceous tumors (epitheliomas & adenomas) , keratoacanthomas

AD; MSH2 , MLH1

Question 7

Conditions with colon polyps + genes + MOI

Answer 7

FAP: APC; AD
MUTYH: MUTYH; AR
Juvenile polyposis syndrome: SMAD4 or BMPR1A; AD
Puetz-jegher syndrome: STK11; AD

Question 8

Regulate cell division and tell cell when to die; acts like brake pedal and keeps the cell from dividing to quickly

Answer 8

Tumor Suppressors

Question 9

Examples of tumor suppressors

Answer 9

Rb, p53, APC, BRCA1/2, NF1/2

Question 10

Regulate cell division; act like a gas pedal when mutated, pushing cell to divide

Answer 10

Oncogenes

Question 11

Reduced ability to repair DNA damage when somatic variants occur; variants from tobacco use, UV exposure, old age

Answer 11

DNA repair genes

Question 12

Cancer w/ childhood screens

Answer 12

LiFraumeni- TP53
Retinoblastoma - RB1
FAP- APC
MEN1/2 - MEN1 + RET
VHL
Cowden- PTEN

Question 13

BRCA_ has higher risk for female breast and ovarian cancer

Answer 13

BRCA1 more risk than BRCA2

Question 14

BRCA_ has higher risk for male breast, prostate, pancreatic, and melanoma

Answer 14

BRCA2 more risk BRCA1

Question 15

Cancer risks CDH1 & reccomendations

Answer 15

lobular breast cancer (42%); diffuse gastric

consider stomach removal* since screening is difficult

Question 16

Cancer/ Tumor risks for Cowden syndrome and other features

Answer 16

Breast, endometrial, thyroid, hamartomas

autism, macrocephaly

Question 17

gene and MOI for Cowden syndrome

Answer 17

PTEN; AD

Question 18

Gene and MOI for LiFraumeni

Answer 18

TP53; AD

Question 19

Cancer and Tumor Risks for Li Fraumeni

Answer 19

Breast, Brain, Bone

Soft tissue sarcomas, adrenocortical carcinoma

Question 20

Gene and MOI for Fanconi Anemia

Answer 20

most common FANCA, AR
other FANC_ ; AR/XL

Question 21

Cancer and Tumor risks for Fanconi Anemia

Answer 21

Acute myeloid leukemia (AML);
solid tumors of the head and neck, skin, and urinary tract;
some genes are breast and other cancer

Question 22

non-cancerous features of Fanconi Anemia

Answer 22

Skin pigmentation differences, upper and lower limb malformations, radial ray anomalies, progressive bone marrow failure by age 10; microcephaly; short

Question 23

If someone has a pathogenic variant in both copies of BRCA2, which condition will we expect them to have

Answer 23

Fanconi Anemia

Question 24

Gene and MOI for FAP

Answer 24

APC, AD

Question 25

De novo rate for FAP

Answer 25

30%

Question 26

Cancer / Tumor risks for FAP

Answer 26

> 100 polyps; colon cancer risk %100 if left untreated
small bowel, papillary thyroid, hepatoblastoma, pancreatic, medulloblastoma

Question 27

Non-cancer features of FAP

Answer 27

Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
missing or extra teeth; osteomas (common on jaw)
Desmond tumors

Question 28

polyp burden for attenuated FAP

Answer 28

~30

Question 29

MUTYH cancer risks + MOI

Answer 29

AR; 10-100s of adenomatous polyps; serrated polyps

increased risk for duodenum, ovary, bladder