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
Dec 18, 2015
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
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
IHCC POLANDHead: Prof. dr habil. n.
med.
Jan Lubiński 16 january 2007 3718 - BRCA1
Mutations CarriersThe largest registry in the world
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
Female genital tract screening by
TV USG detects only
10% of early ovarian
cancerNAROD S.A. ONTARIO
1999
2/ we recommend (patients with BRCA mutation
carriers)
Prophylactic adnexectomy and
hysterectomy at the
completion of childbearing
> 40 yrs of age.
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
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