Surgical management of BRCA-mutation carriers: A single institution experience

Gentile, Damiano; Losurdo, Agnese; Sagona, Andrea; Zuradelli, Monica; Gatzemeier, Wolfgang; Barbieri, Erika; Testori, Alberto; Errico, Valentina; Bianchi, Paolo; Biondi, Ersilia; Torrisi, Rosalba; Santoro, Armando; Tinterri, Corrado

doi:10.1016/j.ejso.2022.04.024

Cited by 16 publications

(15 citation statements)

References 31 publications

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“…Due to the heightened susceptibility to ovarian cancer, the incorporation of BSO constitutes a pivotal component within the multimodal strategy for patients carrying BRCA pathogenic variants. This intervention has been demonstrated to improve disease-free survival and overall survival outcomes [ 24 ].…”

Section: Discussionmentioning

confidence: 99%

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report

Mendes Gomes,

Lazari Sandoval,

Bragança Xavier

et al. 2024

Case Rep Oncol

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Malignant mixed müllerian tumor (MMMT) is a rare neoplasm, consisting of carcinomatous (epithelial) and sarcomatous (mesenchymal) components that most commonly arise in the endometrium and more infrequently in the ovaries, fallopian tube, cervix, and vagina. Primary peritoneal carcinosarcoma (PPCS) is an extremely rare extragenital presentation of MMMT. Although the occurrence of breast cancer and epithelial ovarian carcinoma in association with BRCA pathogenic variants is firmly established, the etiologic role of these genes in the development of other tumor types is less well known. Here, we present a rare case of PPCS in a 42-year-old Brazilian woman with a BRCA2 pathogenic variant, c.2808_2811del (NM_000059.3). The patient developed metastatic breast cancer at the age of 37 and underwent a risk-reducing bilateral salpingo-oophorectomy 2 years later. She was then diagnosed with PPCS 3 years after the risk-reducing surgery. She underwent treatment with surgery, chemotherapy, and targeted therapy but passed away almost 5 years after the second primary tumor diagnosis. To our knowledge, this is the first case of peritoneal carcinosarcoma described in a BRCA2 pathogenic variant carrier, and its report leads to a better understanding of the disease’s molecular features and possible therapeutic approaches.

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Section: Discussionmentioning

confidence: 99%

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report

Mendes Gomes,

Lazari Sandoval,

Bragança Xavier

et al. 2024

Case Rep Oncol

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“…Genetic testing for BRCA1 and BRCA2 pathogenic variants could be carried out either before or after surgery. If the mutation analysis had been performed prior to the operation, surgical treatment of the affected and contralateral breast (breast-conserving surgery versus unilateral or bilateral mastectomy) would have been managed in accordance with patient preferences [ 26 ]. Following surgery, each patient’s adjuvant therapies were discussed by a multidisciplinary tumor board composed of breast surgeons, breast medical oncologists, radiotherapists, radiologists, gynecologists, plastic surgeons, geneticists, and pathologists.…”

Section: Methodsmentioning

confidence: 99%

“…Clinicopathological characteristics that distinguish BRCA-associated BC from sporadic cancer include a higher histological grade, hormone receptor negativity, early-onset of disease, and an elevated risk of synchronous bilateral BC [ 20 , 21 , 22 , 23 , 24 ]. Even though BRCA-mutation carriers only have a 10% chance of developing BC, knowledge of BRCA mutational status is of crucial importance for treatment planning (including bilateral prophylactic mastectomy and salpingo-oophorectomy) [ 25 , 26 ]. Previous retrospective analyses, prospective cohort studies, and meta-analyses investigated the impact of BRCA mutation on the prognosis of YW with BC and compared it with patients with sporadic BC, reporting conflicting findings [ 27 , 28 , 29 , 30 , 31 , 32 , 33 ].…”

Section: Introductionmentioning

confidence: 99%

Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis

Tinterri,

Di Maria Grimaldi,

Sagona

et al. 2023

Cancers

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Background: Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and non-carriers. Methods: We retrospectively reviewed all the consecutive YW (aged 18–40 years) diagnosed with BC. Endpoints were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS). Results: 63 YW with a BRCA mutation were compared with 339 YW without BRCA mutation. BRCA-mutation carriers were younger (60.3% versus 34.8% if age ≤ 35 years, p = 0.001) and presented with more aggressive tumors (66.7% versus 40.7% if G3, p = 0.001; 57.2% versus 12.4% if biological subtype triple-negative, p = 0.001; 73.0% versus 39.2% if Ki67 ≥ 25%, p = 0.001). Non-carriers presented significantly better DFS, DDFS, and OS compared with BRCA-mutation carriers. Neoadjuvant chemotherapy was found to be an independent protective factor for OS in BRCA-mutation carriers. Conclusions: BC is more likely to present at a younger age (≤ 35 years) and with more aggressive characteristics (G3, triple-negative, Ki67 ≥ 25%) in YW with BRCA mutation compared with their non-mutated counterparts. Young BRCA-mutation carriers showed a poorer prognosis in terms of recurrence and survival compared with non-carriers. The implementation of neoadjuvant chemotherapy may improve survival in YW with BC and BRCA mutation.

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“…Gentile et al, suggested that young BRCA -mutated patients with small tumors may not need an up-front mastectomy ( 82 ). Although data from the Danish Breast Cancer Group, reported a reduced risk of death for risk-reducing contralateral mastectomy (RRCM) (adjusted OS hazard ratio: 0.42, p=0.01) ( 83 ).…”

Section: Management Of Brca -Mutated Early-stage B...mentioning

confidence: 99%

BRCA testing and management of BRCA-mutated early-stage breast cancer: a comprehensive statement by expert group from GCC region

Al-Shamsi,

Alwbari,

Azribi

et al. 2024

Front. Oncol.

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BReast CAncer (BRCA)1 and BRCA2 gene pathogenic variants account for most hereditary breast cancers (BC). Identification of BRCA mutations can significantly influence both prognosis and treatment outcomes. Furthermore, it enables the identification of individuals who are at heightened risk of developing BC due to inherited genetic mutations. Many developing countries rely on western guidelines for BRCA testing and BC management; however, there exist wide disparities in the prevalence of risk factors, availability of medical resources, and practice patterns. Guidelines tailored to specific regions can help mitigate healthcare variations, promote consistency in treatment, and aid healthcare providers in identifying effective therapies for improving patient outcomes. Hence, oncologists from the Gulf Cooperation Council (GCC) congregated virtually in March 2023 and reviewed existing data on the epidemiology of BC, BRCA mutations, practices and challenges associated with BRCA testing and management of BRCA mutated early-stage BC in the GCC region. They also provided insights on the real-world diagnostic and treatment practices and challenges in the GCC region in the BRCA-mutated early-stage BC domain and suggested some variations to international guidelines to aid their uptake in this region.

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Surgical management of BRCA-mutation carriers: A single institution experience

Cited by 16 publications

References 31 publications

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline <i>BRCA2</i> Pathogenic Variant: Case Report

Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline <i>BRCA2</i> Pathogenic Variant: Case Report

Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis

BRCA testing and management of BRCA-mutated early-stage breast cancer: a comprehensive statement by expert group from GCC region

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