Adjuvant radiation therapy in patients with breast cancer and Li-Fraumeni syndrome: Oncologic results and incidence of second neoplasms.

Gondim, Guilherme Rocha Melo; Formiga, Maria Nirvana; Castro, Douglas Guedes de; Silva, Maria Letícia Gobo; Chen, Michael; Fogaroli, R.C.; Ramos, H.; Coelho, Tharcisio Machado; Pellizzon, Antônio Cássio Assis; Costa, Alexandre André Balieiro Anastácio da

doi:10.1200/jco.2018.36.15_suppl.e12589

Cited by 3 publications

(4 citation statements)

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“…These findings are consistent with other retrospective studies [29][30][31][32]. As for women with TP53 mutations, the specific risk of CBC is 17.9% at 10 years [21].…”

Section: The Risk Of Contralateral Breast Cancersupporting

confidence: 92%

“…Looking specifically at the TP53 carriers, the risk of recurrence was higher after BCT when compared to mastectomy (21.1% vs. 0%, p = 0.038) [19]. In addition to concerns about LR, retrospective small cohort studies reported rates of radiation-induced secondary cancers as high as 30% in patients with LFS, questioning the safety of radiotherapy and leading to the recommendation of mastectomy for this population [20,21]. The largest series to address this question was recently reported by Le et al, comparing 18 patients with LFS to 3731 women without LFS who underwent definitive radiation for their breast cancer.…”

Section: Local Therapy Decisionsmentioning

confidence: 99%

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The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient

2023

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For patients with newly diagnosed breast cancer, information regarding hereditary predisposition can influence treatment decisions. From a surgical standpoint, patients with known germline mutations may alter decisions of local therapy to reduce the risk of second breast primaries. This information may also be considered in the choice of adjuvant therapies or eligibility for clinical trials. In recent years, the criteria for the consideration of germline testing in patients with breast cancer has expanded. Additionally, studies have shown a similar prevalence of pathogenic mutations in those patients outside of these traditional criteria, prompting calls for genetic testing for all patients with a history of breast cancer. While data confirms the benefit of counseling by certified genetics professionals, the capacity of genetic counselors may no longer meet the needs of these growing numbers of patients. National societies assert that counseling and testing can be performed by providers with training and experience in genetics. Breast surgeons are well positioned to offer this service, as they receive formal genetics training during their fellowship, manage these patients daily in their practices, and are often the first providers to see patients after their cancer diagnosis.

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“…These findings are consistent with other retrospective studies [29][30][31][32]. As for women with TP53 mutations, the specific risk of CBC is 17.9% at 10 years [21].…”

Section: The Risk Of Contralateral Breast Cancersupporting

confidence: 92%

Section: Local Therapy Decisionsmentioning

confidence: 99%

The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient

2023

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“…Given the increased sensitivity to ionizing radiation and the increased risk for radiation-induced malignancies in patients with germline pathogenic TP53 variants, there are concerns about the safety of repeated mammograms. ere is no consensus in the literature, but in light of the limited additional sensitivity of mammography when MRI and alternating whole-body diffusion-weighted MRI are used, risks seem to outweigh benefits [28][29][30]. In case of family history of breast cancer diagnosed earlier than 20 years of age, breast MRI might start five years prior to the earliest age of diagnosis.…”

Section: Li-fraumeni Syndromementioning

confidence: 99%

Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

Piombino

Cortesi

Lambertini

et al. 2020

Journal of Oncology

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BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li–Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz–Jeghers syndrome, and NF1 in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with BRCA1 and BRCA2 in the double-strand break repair system, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.

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“…The TP53 gene is considered a guardian of the genome, as it is involved in DNA repair, the regulation of cell cycle checkpoints, etc. TP53 mutations have been associated with impaired repair of DNA damages induced by RT in some studies, and its use is avoided in patients with Li-Fraumeni syndrome [43].…”

Section: Genetic Alterations In Radiation-induced Breast Sarcomasmentioning

confidence: 99%

Clinical and Molecular Insights of Radiation-Induced Breast Sarcomas: Is There Hope on the Horizon for Effective Treatment of This Aggressive Disease?

Kokkali

Durán

Klijanienko

et al. 2022

IJMS

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Radiation-induced breast sarcomas (RIBS) are rare entities representing <1% of all primary breast malignancies, limiting most reports to small retrospective case series. They constitute a heterogeneous group of neoplasms, with high-grade angiosarcoma being the most common subtype. Other sarcoma histotypes, such as undifferentiated pleomorphic sarcoma and leiomyosarcoma, can also be identified. Radiation-induced breast angiosarcoma (RIBA) has an incidence of approximately 0.1% after breast-conserving therapy and arises mainly from the dermis of the irradiated breast. MYC gene amplification is highly indicative of secondary breast angiosarcomas. Their clinical presentation often mimics benign port-radiation lesions, leading to a delay in diagnosis and a lost window of opportunity for cure. Surgery with negative margins is the mainstay of treatment of localized RIBS. In the case of angiosarcoma, technical difficulties, including multifocality, infiltrative margins, and difficulty in assessing tumor margins, render surgical treatment quite challenging. A limited number of studies showed that adjuvant radiation therapy reduces local recurrences; therefore, it is proposed by many groups for large, high-grade tumors. Chemotherapy has been evaluated retrospectively in a small subset of patients, with some evidence supporting its use in angiosarcoma patients. Approximately half of patients with RIBA will show local recurrence. In the advanced setting, different therapeutic options are discussed in the review, including chemotherapy, antiangiogenic therapy, and immunotherapy, whereas the need for further research on molecular therapeutic targets is pointed out.

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Adjuvant radiation therapy in patients with breast cancer and Li-Fraumeni syndrome: Oncologic results and incidence of second neoplasms.

Cited by 3 publications

References 0 publications

The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient

The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient

Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

Clinical and Molecular Insights of Radiation-Induced Breast Sarcomas: Is There Hope on the Horizon for Effective Treatment of This Aggressive Disease?

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