Abstract
Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2, with high penetrance are supposed to be the cause for an approximated 5-7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated (BRCAmut) BC differs for lifetime risk of onset and sensitivity to systemic therapies. A hereditary BC syndrome should be taken into account when there are numerous relatives with BC early-onset (typically before menopause). Moreover, BRCAmut carriers showed a lifetime possibility of manifesting OC. When a BC diagnosis is made in young patients or in suspicious personal relatives' anamnesis, be aware of being carriers of a BRCA mutation may influence the decision making-process about surgical procedure and prevention strategies. In this review, we examined surgical treatment choice for BRCAmut BC, risk of ipsilateral breast recurrence (IBR) and contralateral breast cancer (CBC). We examined the role of breast-conserving therapy (BCT), risk-reducing mastectomy (RRM) and preventive risk-reducing salpingo-oophorectomy (RRSO) with a special consideration about advantage in terms of mortality reduction for both conservative and prophylactic measures. We also reviewed the sensitivity of mutated BC to platinum-based antineoplastic drugs and poly (ADP-ribose) polymerase inhibitors (PARPi) by emphasizing the results of clinical trials recently published.
| Original language | English |
|---|---|
| Pages (from-to) | S329-S338 |
| Journal | Translational Cancer Research |
| Volume | 7 |
| DOIs | |
| Publication status | Published - Apr 1 2018 |
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Keywords
- BRCA mutation
- Breast cancer (BC)
- Platinum compounds
- Poly (ADP-ribose) polymerase inhibitors (PARPi)
- Risk-reducing surgery
ASJC Scopus subject areas
- Oncology
- Radiology Nuclear Medicine and imaging
- Cancer Research
Cite this
Management of BRCA mutation carriers. / Paris, Ida; Di Giorgio, Danilo; Palluzzi, Eleonora; Garganese, Giorgia; Terribile, Daniela Andreina; Fragomeni, Simona Maria; D'Archi, Sabatino; Scambia, Giovanni; Masetti, Riccardo.
In: Translational Cancer Research, Vol. 7, 01.04.2018, p. S329-S338.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Management of BRCA mutation carriers
AU - Paris, Ida
AU - Di Giorgio, Danilo
AU - Palluzzi, Eleonora
AU - Garganese, Giorgia
AU - Terribile, Daniela Andreina
AU - Fragomeni, Simona Maria
AU - D'Archi, Sabatino
AU - Scambia, Giovanni
AU - Masetti, Riccardo
PY - 2018/4/1
Y1 - 2018/4/1
N2 - Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2, with high penetrance are supposed to be the cause for an approximated 5-7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated (BRCAmut) BC differs for lifetime risk of onset and sensitivity to systemic therapies. A hereditary BC syndrome should be taken into account when there are numerous relatives with BC early-onset (typically before menopause). Moreover, BRCAmut carriers showed a lifetime possibility of manifesting OC. When a BC diagnosis is made in young patients or in suspicious personal relatives' anamnesis, be aware of being carriers of a BRCA mutation may influence the decision making-process about surgical procedure and prevention strategies. In this review, we examined surgical treatment choice for BRCAmut BC, risk of ipsilateral breast recurrence (IBR) and contralateral breast cancer (CBC). We examined the role of breast-conserving therapy (BCT), risk-reducing mastectomy (RRM) and preventive risk-reducing salpingo-oophorectomy (RRSO) with a special consideration about advantage in terms of mortality reduction for both conservative and prophylactic measures. We also reviewed the sensitivity of mutated BC to platinum-based antineoplastic drugs and poly (ADP-ribose) polymerase inhibitors (PARPi) by emphasizing the results of clinical trials recently published.
AB - Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2, with high penetrance are supposed to be the cause for an approximated 5-7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated (BRCAmut) BC differs for lifetime risk of onset and sensitivity to systemic therapies. A hereditary BC syndrome should be taken into account when there are numerous relatives with BC early-onset (typically before menopause). Moreover, BRCAmut carriers showed a lifetime possibility of manifesting OC. When a BC diagnosis is made in young patients or in suspicious personal relatives' anamnesis, be aware of being carriers of a BRCA mutation may influence the decision making-process about surgical procedure and prevention strategies. In this review, we examined surgical treatment choice for BRCAmut BC, risk of ipsilateral breast recurrence (IBR) and contralateral breast cancer (CBC). We examined the role of breast-conserving therapy (BCT), risk-reducing mastectomy (RRM) and preventive risk-reducing salpingo-oophorectomy (RRSO) with a special consideration about advantage in terms of mortality reduction for both conservative and prophylactic measures. We also reviewed the sensitivity of mutated BC to platinum-based antineoplastic drugs and poly (ADP-ribose) polymerase inhibitors (PARPi) by emphasizing the results of clinical trials recently published.
KW - BRCA mutation
KW - Breast cancer (BC)
KW - Platinum compounds
KW - Poly (ADP-ribose) polymerase inhibitors (PARPi)
KW - Risk-reducing surgery
UR - http://www.scopus.com/inward/record.url?scp=85045952355&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85045952355&partnerID=8YFLogxK
U2 - 10.21037/tcr.2018.01.23
DO - 10.21037/tcr.2018.01.23
M3 - Review article
AN - SCOPUS:85045952355
VL - 7
SP - S329-S338
JO - Translational Cancer Research
JF - Translational Cancer Research
SN - 2218-676X
ER -