Hereditary ovarian/breast cancers

(HOC/HBOC)

Chair and Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents.

Head: Prof. zw. dr hab. n. med. Izabella Rzepka–Górska

HOC - SS

HBOC (~80%)

Definitive criteria for HOC

at least 3 relatives

with ovarian cancer

one of them is I0 or II0 relative for two others

Criteria for

high probability

HOC

1/ two ovarian cancer

diagnosed in I0 or II0

(any age)

2/ one ovarian cancer (diagnosed in any age) and

patients second primary breast cancer or

breast cancer diagnosed

before the age of 50 years in I0 or II0 relatives

Clinical characteristics

of HOC

I group HOC – pedigree criteria(patients with ovarian cancer)

II group HOC – patients with ovarian cancer

and detected founder mutation of

BRCA1 gene

Age at diagnosis (of ovarian cancer)

HOC - 51,6 yrs

HOC(BRCA1+) - 51,44 yrs

Age at diagnosis (of ovarian cancer)

in Norway

HBOC(BRCA1+) - 51,5 yrs

Borg et al.

Age at diagnosis (of ovarian cancer)

56 - 61 yrs

(in general populations)

FIGO staging - III0 & IV0

(of ovarian cancer)

HOC – 86,36%HOC (BRCA1+) – 83,87%

FIGO staging - III0 & IV0

(of ovarian cancer)

in Norway

HBOC(BRCA1+) - 81,82%Borg et al.

Morphological grading - G3

(of ovarian cancer)

HOC – 81,25%HOC (BRCA1+) – 73,91%

Morphological grading - G3

(of ovarian cancer)

in Norway

HBOC(BRCA1+) - 82%Borg et al.

Histopathological type - serous

(of ovarian cancer)

HOC – 86,36%HOC(BRCA1+) – 80,77%

Histopathological type - serous

(of ovarian cancer)

in Norway

HBOC(BRCA1+) - 91% Borg et al.

BRCA1(ovarian cancer)

46 - 50 - III/IV - 3

D N A

testing

IHCC POLANDHead: Prof. dr habil. n.

med.

Jan Lubiński 16 january 2007 3718 - BRCA1

Mutations CarriersThe largest registry in the world

IN POLAND

13.5% of ovarian cancer develop in

BRCA1 mutation carriers

Frequency of BRCA1 mutations in series of consecutive ovarian cancers from different populations

POPULATIONFrequency of mutations

% n

ASHKENAZI JEWISH 35,527,5

67/18957/208

POLISH 13,5 49/364

PAKISTANI 13,3 16/120

HUNGARIAN 11,1 10/90

USA 8,6 10/116

CANADIAN 7,6 39/515

FRENCH CANADIAN 5,1 5/99

FINNISH 4,7 11/233

JAPANESE 4,0 3/76

BRITISH 3,4 12/355

NORWEGIAN 3,3 2/60

Now we have

the question?

What we can do

with members hereditary

cancer families ?

S c r e e n i n g

1/ Intravaginal USG

+ CA 125 - beginning  20 -

25(yrs) Interval 6 (months)

Female genital tract screening by

TV USG detects only

10% of early ovarian

cancerNAROD S.A. ONTARIO

1999

What yet

we can do?

2/ we recommend (patients with BRCA mutation

carriers)

Prophylactic adnexectomy and

hysterectomy at the

completion of childbearing

> 40 yrs of age.

Prophylactic operations

in our Clinic 1 january 2007 - 125

I N C I D E N C E

1

D42

1958*/+/Ov40

21938

3

D55

1934FGT-Ov?

41960

51961

6

D38

1956Ov37

71969*/+/

8

91984*/-/

101986*/-/

11

12 13 14 15

16

171986

18

19 201977

21

22 23

24

D80

25

D80

26 2728 29 30

31

D80

32

D48

FGT

33

D45

Ov4534 35 36

11952*/-/

Ov48

21920

3

D53

Ov53

41952*/-/

5

61982

7

D80

CSU8

D80

CSU

91921

101924

11

12

2

131950

14

151977

161976

171975

18 19

20

D67

Col21

D46

Ov

22

D70

Col6923

D63

Pan24

25

D40

26

27Col52

351

D73

1930*/+/Ov69

2

D76

3

D86

41925

51933

61943

7

D19

81923*/-/

91935*/-/

10

111966

121961

131960

141964

151952*/-/

16 17

18

2

19

2

20 21

22

3

23

2

24

25

2

26

27

28

29

31

3

36

2

37

2

38

39 4041

42

3

43

44

3

45

46 47

2

48

49

4

50

30

2

1

2 3

d43

brest

4yrs53ovary

5

6 7

d80

brest

891011 12

d43

lung13

d68

ovary14

15

d38

brest

PATIENT-1/34

1

2

d40

3

d49

ovary48

4

5yrs74

6

d54

ovary

7yrs51

8yrs41

11yrs63

12

d61

brest13

14yrs35

15

d37

CSU16

yrs34

9 10

P A T I E N T - 2 / 35

1yrs32,surg.32

M.BRCA-1

2

3 4 5

6 7

d54

ovary

8 9 10

d42

ovaryM.BRCA-1

11

d37

ovary12

13 14yrs23

M.BRCA-1

15 16

d40

ovary

17 18

d45

ovary19 21

22 23

d51

ovary

24 25 26

20

27

28No mutation

29No mutation

PATIENT-3/36

Patient 3/36

1surg.40yrs

2

3 4

5 6

d70

colon

7 8 9

d51

ovary4710

d45

ovary4111

12 13

14

15

PATIENT 4/37

1

D56

ovary

2

d60

prostate3

d63

ovary

4 5yrs63

6yrs61

7yrs51

8yrs63

9

d59

ovary10

d51

ovary

11 12

13

d60

stomach14

d42

liver15

2

16

d80

17

d37

FGT

18

4

no cancer

PATIENT 5/38

1yrs53

23

d75

ovary

4yrs46

5yrs43

6 7

d80

FGT

8

d72

9

d69

prostate10

d17

leukaemia11

d60

brain12

d72

FGT13

d63

corpus uteri

16

17

d56

rectem18

20

21 22 23

d54

FGT

24

25

D56

FGT

Patient 7/40

1

d28

ovary25M.BRCA-1

2

D46

lung3

NO MutatioBRCA-1

4yrs21

BRCA-1

56

d69

FGT

7 8

9 10

d60

FGT

11 12CSU

13CSU

14CSU

15 16CSU

PATIENT 9/42

Kazdy rak jajnika jest wskazaniem do wykonania testów molekularnych

genów BRCA

Every

ovarian and breast cancer

– indication for B R C A testing