3.14. |
Genetic testing should be offered if women have a familial or individual risk with an at least 10% probability of mutation. This applies if, in one line of the family,
at least 3 women developed breast cancer
at least 2 women developed breast cancer, one of whom was aged less than 51 years
at least 1 woman developed breast cancer and 1 woman developed ovarian cancer
at least 2 women developed ovarian cancer
at least 1 woman developed breast cancer and ovarian cancer
at least 1 woman aged 35 years or younger developed breast cancer
at least 1 woman aged 50 years or less developed bilateral breast cancer
at least 1 man developed breast cancer and 1 woman developed breast cancer or ovarian cancer.
Patients should be given a suitable period for reflection before carrying out diagnostic procedures. |
B |
|
27
|
EC/2a for the probability of a mutation |
3.15. |
The consultation must permit participatory decision-making. To ensure they can adequately participate in decision-making, women must receive extensive and detailed information and their preferences must be identified and taken into account in the decision-making process. Evidence-based support can improve the decisions taken by affected women. The following topics must be included in the risk consultation prior to genetic testing:
the probability of a mutation
the risk of developing disease if findings are positive
the benefit and harm of preventive and therapeutic options including the option to not do anything
the probability of false-negative findings
the importance of genetic testing for other family members
After obtaining genetic findings, the patientʼs understanding of the following topics must be expanded during the risk consultation before she is offered preventive measures:
the risk of developing disease depends on the genetic findings, age and co-morbidities (natural course)
the probability of false-positive and false-negative test results with intensified screening
the benefit of preventive options (intensified screening, prophylactic surgery, drug therapies) for reducing mortality and morbidity and improving quality of life
the risks of preventive options, including long-term sequelae
the concurrent risks, prognosis and treatability in the event that the patient develops disease without undertaking preventive measures, based on the specific manifestation of the genetically defined tumor subtype
the possible risk of associated tumors
the patient should be offered psycho-oncologic counselling
|
EC/1a for improvements in decision-making
28
,
29
,
30
,
31
,
32
,
33
|
3.16. |
a) BRCA1-associated breast cancers often have a characteristic histopathological and immunohistochemical phenotype:
invasive carcinoma with medullary features
G3 morphology
estrogen receptor, progesterone receptor and HER2 negativity (triple negative)
|
2a for histopathological characteristics |
b) If these characteristics are present, the pathologist should inform the patient that they could have a hereditary propensity to disease. |
EC |
3.17. |
Patients with a pathogenic BRCA1/2 mutation (IARC class 4/5) should and patients with a residual lifetime risk of ≥ 30% can undergo intensified screening including MRI only following a transparent quality assurance process and after appropriate evaluation.
Additional mammography screening after the age of 40 should be carried out as part of a transparent quality assurance process and after appropriate evaluation.
|
|
3.18. |
a)
The surgical therapy of BRCA-associated breast cancer corresponds to the guideline recommendations for sporadic breast cancer.
Mastectomy offers no survival benefits compared to breast-conserving therapy.
The drug therapy used to treat BRCA-associated breast cancer corresponds to the guideline recommendations for sporadic breast cancer.
b) There are some indications that platinum-based chemotherapy can result in a better response to treatment compared to standard chemotherapy. |
|
|
34
,
35
,
36
,
37
,
38
,
39
|
3.19. |
Healthy women with a BRCA1 or BRCA2 mutation have an increased lifelong risk of developing breast cancer.
In healthy women with a pathogenic BRCA1 or BRCA2 gene mutation, bilateral prophylactic mastectomy results in a reduction in the incidence of breast cancer. There is not yet sufficient evidence for a reduction in breast cancer-specific mortality or overall mortality following bilateral prophylactic mastectomy.
Every individual decision for or against bilateral prophylactic mastectomy requires in every case that the patient is given detailed information with multidisciplinary counselling about the potential benefits and disadvantages of such a procedure and must include the consideration of potential alternatives.
|
2a |
|
26
,
40
,
41
,
42
,
43
,
44
,
45
,
46
,
47
,
48
|
3.20. |
Women with a pathogenic BRCA1 or BRCA2 mutation have an increased lifelong risk of ovarian cancer, fallopian tube cancer and/or primary peritoneal cancer.
In healthy women with a pathogenic BRCA1 or BRCA2 gene mutation, prophylactic adnexectomy reduces the incidence of ovarian cancer and reduces overall mortality. Prophylactic bilateral salpingo-oophorectomy must therefore be discussed and recommended on a case-by-case basis and as part of extensive multidisciplinary counselling about the potential benefits and disadvantages of such a procedure and must take the lack of effective screening options into account.
|
2a |
|
40
,
44
,
49
,
50
,
51
,
52
|
3.21. |
Women with a pathogenic BRCA1 or BRCA2 gene mutation who have already developed breast cancer have an increased risk of developing contralateral breast cancer. The risk also depends on the affected gene and on the age at which the woman first developed disease and must be taken into account during counselling.
In women with a pathogenic BRCA1 or BRCA2 gene mutation, contralateral, secondary prophylactic mastectomy reduces the risk of contralateral cancer. When considering whether contralateral secondary prophylactic mastectomy is indicated, the prognosis for the primary tumor must be taken into account.
In patients with a pathogenic BRCA1 or BRCA2 gene mutation, prophylactic adnexectomy reduces breast cancer-specific mortality and increases overall survival.
|
2a |
|
27
,
53
,
54
,
55
,
56
,
57
,
58
,
59
,
60
|
3.22. |
The benefit of prophylactic or secondary prophylactic contralateral mastectomy has not been proven for women with verified BRCA1 or BRCA2 gene mutations. |
2a |
|
55
,
61
,
62
|
3.23. |
Healthy women, women who have developed disease, and men with an increased risk of developing disease should be encouraged to contact cancer self-help organizations to obtain further information if required and to encourage them to insist on their right of self-determination. They should be supported:
if there is a suspicion of hereditary propensity to disease
as they consider genetic testing
before undertaking prophylactic measures
Appropriate printed information material should be available. |
EC |