Rapid Genetic Counselling in Newly Diagnosed Breast Cancer
Rapid Genetic Counselling in Newly Diagnosed Breast Cancer
Background: Risk-reducing mastectomy (RRM) decreases breast cancer (BC) risk in BRCA1/2 mutation carriers by up to 95%, but the Italian attitude towards this procedure is reluctant.
Patients and Methods: This is an observational study with retrospective design, using quantitative and qualitative research methods, aimed at evaluating the attitude towards RRM by rapid genetic counselling and testing (RGCT), at the time of BC diagnosis, compared with traditional genetic counselling and testing (TGCT), after previous BC surgery. Secondary aims were to investigate patient satisfaction after RRM and the rate of occult tumour in healthy breasts. A total of 1168 patients were evaluated: 1058 received TGCT, whereas 110 underwent RGCT.
Results: In TGCT, among 1058 patients, 209 (19.7%) mutation carriers were identified, with the rate of RRM being 4.7% (10 of 209). Conversely in RGCT, among 110 patients, 36 resulted positive, of which, 15 (41.7%) underwent bilateral mastectomy at the BC surgery time, showing an overall good satisfaction, measured by interpretative phenomenological analysis 12 months after the intervention.
Conclusions: Our study shows that RGCT in patients with a hereditary profile is associated with a high rate of RRM at the BC surgery time, this being the pathway offered within a multidisciplinary organization.
BRCA1 or BRCA2 germline mutations have been found in 15%–30% of patients from high-risk families, and are responsible for up to 88% lifetime risk of developing breast cancer (BC).BRCA1/2 mutation carriers previously affected by BC have a 47% cumulative risk of developing contralateral BC (CBC) after 25 years. Thus, newly diagnosed BRCA1/2 BC patients could undergo bilateral mastectomy (BLM) to reduce the risk of CBC and avoid radiotherapy. Today, the new technologies available create opportunities for providing rapid genetic counselling and testing (RGCT) in about 3–4 weeks, delivering information potentially relevant for deciding the type of surgery and adjuvant therapy in real time compared with traditional genetic counselling and testing (TGCT) that usually requires 6 months to be completed. Consequently, up to one half of the BC patients carrying a BRCA1 or BRCA2 mutation opt for a BLM.
Data from the literature highlighted that psychological distress in BC patients approaching genetic counselling after surgery was not worsened by any extra psychological burden. Wevers et al. showed that RGCT in high-risk BC patients may influence surgical treatment, causing no long-term psychosocial distress in the majority of cases. Women who underwent contralateral prophylactic mastectomy (CPM), experienced no change in self-esteem (83%), level of stress (83%), and emotional stability (88%), but dissatisfaction with body appearance, feelings of lost femininity, and sexual problems have been reported.
Our RGCT model was focussed on a multidisciplinary approach by involving into the counselling process oncologists, psychologists and general and plastic surgeons.
In this observational study we evaluated the attitude towards risk-reducing mastectomy (RRM) by RGCT, at the time of BC diagnosis, compared with TGCT, after previous BC surgery. Furthermore, we investigated patient satisfaction after RRM and the rate of occult tumour in healthy breasts.
Abstract and Introduction
Abstract
Background: Risk-reducing mastectomy (RRM) decreases breast cancer (BC) risk in BRCA1/2 mutation carriers by up to 95%, but the Italian attitude towards this procedure is reluctant.
Patients and Methods: This is an observational study with retrospective design, using quantitative and qualitative research methods, aimed at evaluating the attitude towards RRM by rapid genetic counselling and testing (RGCT), at the time of BC diagnosis, compared with traditional genetic counselling and testing (TGCT), after previous BC surgery. Secondary aims were to investigate patient satisfaction after RRM and the rate of occult tumour in healthy breasts. A total of 1168 patients were evaluated: 1058 received TGCT, whereas 110 underwent RGCT.
Results: In TGCT, among 1058 patients, 209 (19.7%) mutation carriers were identified, with the rate of RRM being 4.7% (10 of 209). Conversely in RGCT, among 110 patients, 36 resulted positive, of which, 15 (41.7%) underwent bilateral mastectomy at the BC surgery time, showing an overall good satisfaction, measured by interpretative phenomenological analysis 12 months after the intervention.
Conclusions: Our study shows that RGCT in patients with a hereditary profile is associated with a high rate of RRM at the BC surgery time, this being the pathway offered within a multidisciplinary organization.
Introduction
BRCA1 or BRCA2 germline mutations have been found in 15%–30% of patients from high-risk families, and are responsible for up to 88% lifetime risk of developing breast cancer (BC).BRCA1/2 mutation carriers previously affected by BC have a 47% cumulative risk of developing contralateral BC (CBC) after 25 years. Thus, newly diagnosed BRCA1/2 BC patients could undergo bilateral mastectomy (BLM) to reduce the risk of CBC and avoid radiotherapy. Today, the new technologies available create opportunities for providing rapid genetic counselling and testing (RGCT) in about 3–4 weeks, delivering information potentially relevant for deciding the type of surgery and adjuvant therapy in real time compared with traditional genetic counselling and testing (TGCT) that usually requires 6 months to be completed. Consequently, up to one half of the BC patients carrying a BRCA1 or BRCA2 mutation opt for a BLM.
Data from the literature highlighted that psychological distress in BC patients approaching genetic counselling after surgery was not worsened by any extra psychological burden. Wevers et al. showed that RGCT in high-risk BC patients may influence surgical treatment, causing no long-term psychosocial distress in the majority of cases. Women who underwent contralateral prophylactic mastectomy (CPM), experienced no change in self-esteem (83%), level of stress (83%), and emotional stability (88%), but dissatisfaction with body appearance, feelings of lost femininity, and sexual problems have been reported.
Our RGCT model was focussed on a multidisciplinary approach by involving into the counselling process oncologists, psychologists and general and plastic surgeons.
In this observational study we evaluated the attitude towards risk-reducing mastectomy (RRM) by RGCT, at the time of BC diagnosis, compared with TGCT, after previous BC surgery. Furthermore, we investigated patient satisfaction after RRM and the rate of occult tumour in healthy breasts.
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