The molecular and genetic basis of inherited cancer risk in gynaecology TOG 2015

Question 1

BRCA2 risk of breast and ovarian cancer

Answer 1

Breast 59%
Ovarian 11-27%

Question 1

BRCA1 risk of breast and ovarian cancer

Answer 1

55-65%

Question 2

What % of women with ovarian cancer have germline mutations in BRCA1 or BRCA2?

Answer 2

19%

Question 3

Most common gene abnormality in HNPCC (Lynch)

Answer 3

MLH1 or MSH2 (MMR genes, similar to tumour suppressor)

Question 4

In what % of sporadic endometrial cancers <50yrs if a MMRY gene mutation identified?

Answer 4

9%

Question 5

Which Lynch syndrome mutation has the highest risk of cancer?

Answer 5

MLH1

Question 6

Which genes are abnormal in Muir-Torre syndrome, what is the inheritance?

Answer 6

MLH 1 and MSH 2
AD

Question 7

What gene is abnormal in Peutz-Jeghers syndrome?

Answer 7

STK11 (LKB1)

Question 8

What cancers are more common in Peutz-Jeghers syndrome?

Answer 8

Cervical (adenoma malifnum)
Ovarian (sex cord stromal)
Breast

Question 9

Cowden syndrome have a germline mutation in which gene?

Answer 9

PTEN (tumour suppressor gene through the activation of the phosphatase protein)

Question 10

What cancers are more common in Cowden syndrome?

Answer 10

Mucocutabous lesions
Fibrocystic breast disease
Thyroid abnormality
Multiple uterine leiomnyoma
GI polyps
Macrocephaly

Question 11

What is the most common undifferentiated ovarian malignancy in women under the age of 40 yrs?

Answer 11

Small cell ovarian carcinoma, hypercalcarmia

Question 12

Which gene mutations is seek in >75% of women with Small cell ovarian carcinoma, hypercalcarmia

Answer 12

SMARCA4