Article
Oncology
Jie Sun, Futao Chu, Jiani Pan, Yaxin Zhang, Lu Yao, Jiuan Chen, Li Hu, Juan Zhang, Ye Xu, Xiaojia Wang, Wenming Cao, Yuntao Xie
Summary: The purpose of this study is to develop a risk prediction model for contralateral breast cancer(CBC) in patients with BRCA1/2 variants. The study found that age, family history, variant location, and endocrine therapy are associated with the risk of CBC. The model provides a useful tool for BRCA1/2 carriers to select risk-reducing strategies based on individual CBC risk.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Review
Oncology
Huijun Lei, Min Zhang, Luyao Zhang, Kari Hemminki, Xiao-jia Wang, Tianhui Chen
Summary: Carriers with BRCA1/2 germline pathogenic variants have a high risk of breast and ovarian cancers, among others. The prevalence and spectrum of germline BRCA mutations in the Chinese population show ethnic specificity. Next-generation sequencing panel is the common method for BRCA1/2 screening. It is recommended that all Chinese individuals diagnosed with breast, ovarian, pancreatic, or prostate cancers, as well as healthy family members, undergo BRCA1/2 gene testing to provide risk assessment and timely preventive measures.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Damiano Gentile, Agnese Losurdo, Andrea Sagona, Monica Zuradelli, Wolfgang Gatzemeier, Erika Barbieri, Alberto Testori, Valentina Errico, Paolo Bianchi, Ersilia Biondi, Rosalba Torrisi, Armando Santoro, Corrado Tinterri
Summary: This study compared the oncological outcomes of BRCA-mutation carriers treated with breast-conserving therapy (BCT) or mastectomy. It also analyzed the role of bilateral salpingo-oophorectomy (BSO) and identified independent predictive factors for BC treatment. The results showed that there was no significant difference in disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS) between patients treated with BCT or mastectomy. Patients treated with BSO had better DDFS and OS compared to ovarian conservation. Three predictive factors for BCT were identified: age <= 41 years, genetic testing performed post-operatively, and breast tumors <= 21 mm.
Article
Surgery
Shelby Chun Fat, Christina Weed, Yasmina Samaha, Alice Chung, Marissa K. Boyle, Armando Giuliano, Edward Ray, Farin Amersi
Summary: This study aimed to determine the correlation between preoperative imaging and final pathology, as well as evaluate the role of sentinel lymph node biopsies (SLNB) in high-risk patients undergoing prophylactic mastectomies (BPM). The results showed a high rate of discordance between preoperative imaging and final pathology, indicating that routine SLNB at the time of BPM is not supported.
Article
Oncology
Stephanie M. Wong, Amina Ferroum, Carla Apostolova, Basmah Alhassan, Ipshita Prakash, Mark Basik, Jean Francois Boileau, Sarkis Meterissian, Olga Aleynikova, Nora Wong, William D. Foulkes
Summary: This study analyzes the likelihood of occult malignancy during risk-reducing mastectomy in high-penetrance pathogenic variant carriers. The study finds that the rate of occult malignancy is low and suggests that sentinel lymph node biopsy can be safely avoided when preoperative imaging reveals benign or low-risk findings.
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Health Care Sciences & Services
Emanuele Cammarata, Francesca Toia, Matteo Rossi, Calogero Cipolla, Salvatore Vieni, Antonino Speciale, Adriana Cordova
Summary: Women with BRCA gene mutations have a higher lifetime risk of developing breast cancer, diagnosed at a younger age. Risk management strategies include surveillance or risk-reducing mastectomy. Implant-based breast reconstruction, using either submuscular or prepectoral approach, is commonly used after risk-reducing surgery. Results show no significant differences in complications between two-stage tissue expander/implant reconstruction and direct-to-implant (DTI) reconstruction, with DTI providing superior aesthetic outcomes, especially in the prepectoral subgroup.
Article
Surgery
Krystof Stanek, Martina Zimovjanova, Petr Suk, Filip Jonas, Anna Zimovjanova, Martin Molitor, Ondrej Mestak
Summary: Mutations in the BRCA1 or BRCA2 genes increase the risk of developing breast cancer, and prophylactic mastectomy is a way to manage this risk. A study compared the occurrence of breast cancer between nipple-sparing mastectomy and surveillance groups of BRCA1 or BRCA2 mutation carriers, indicating that nipple-sparing mastectomy appears to be at least equally safe as other types of mastectomy for preventing breast cancer in these carriers.
AESTHETIC PLASTIC SURGERY
(2022)
Article
Oncology
Tamar Safra, Barliz Waissengrin, Deanna Gerber, Rinat Bernstein-Molho, Geula Klorin, Lina Salman, Dana Josephy, Rakefet Chen-Shtoyerman, Ilan Bruchim, Melissa K. Frey, Bhavana Pothuri, Franco Muggia
Summary: The study evaluated the incidence of breast cancer and overall survival in ovarian cancer patients carrying BRCA1/2 mutations. It found that routine breast surveillance may be sufficient in ovarian cancer survivors, as the incidence of breast cancer after ovarian cancer was low in BRCA1/2 mutation carriers.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Oncology
Maryam Nemati Shafaee, Kristina Goutsouliak, Heather Lin, Therese B. Bevers, Angelica Gutierrez-Barrera, Melissa Bondy, Banu Arun
Summary: This study demonstrates for the first time that aromatase inhibitors reduce the risk of contralateral breast cancer in BRCA mutation carriers. This finding, different from previous studies on tamoxifen, has important clinical implications for chemoprevention.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Siddhartha Yadav, Nicholas J. Boddicker, Jie Na, Eric C. Polley, Chunling Hu, Steven N. Hart, Rohan D. Gnanaolivu, Nicole Larson, Susan Holtegaard, Huaizhi Huang, Carolyn A. Dunn, Lauren R. Teras, Alpa V. Patel, James V. Lacey, Susan L. Neuhausen, Elena Martinez, Christopher Haiman, Fei Chen, Kathryn J. Ruddy, Janet E. Olson, Esther M. John, Allison W. Kurian, Dale P. Sandler, Katie M. O'Brien, Jack A. Taylor, Clarice R. Weinberg, Hoda Anton-Culver, Argyrios Ziogas, Gary Zirpoli, David E. Goldgar, Julie R. Palmer, Susan M. Domchek, Jeffrey N. Weitzel, Katherine L. Nathanson, Peter Kraft, Fergus J. Couch
Summary: The purpose of this study was to estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. The results showed that BRCA1, BRCA2, and CHEK2 PV carriers with breast cancer had significantly higher risks of CBC, while only PALB2 PV carriers with ER-negative breast cancer had elevated risks. However, ATM PV carriers did not have significantly increased CBC risks. The study suggests that women diagnosed with breast cancer and known to carry germline PVs in certain genes may benefit from enhanced surveillance and risk reduction strategies.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Sarah Shubeck, Varadan Sevilimedu, Elizabeth Berger, Mark Robson, Alexandra S. Heerdt, Melissa L. Pilewskie
Summary: This study compared the outcomes of BRCA mutation carriers who underwent breast-conserving surgery (BCS) versus mastectomy. The results showed no difference in locoregional recurrence, breast cancer-specific survival, and overall survival between patients who underwent BCS or mastectomy. However, a higher incidence of contralateral breast cancer was observed among patients who underwent unilateral breast surgery.
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Oncology
Nadav Michaan, Moshe Leshno, Tamar Safra, Amir Sonnenblick, Ido Laskov, Dan Grisaru
Summary: Research in Israel has shown that whole population BRCA screening is cost effective across a wide range of prevalence rates. This suggests that it should be offered by national medical insurance providers as part of general health screening strategies for cancer prevention.
CANCER PREVENTION RESEARCH
(2021)
Review
Medicine, General & Internal
Serena Bertozzi, Ambrogio P. Londero, Anjeza Xholli, Guglielmo Azioni, Roberta Di Vora, Michele Paudice, Ines Bucimazza, Carla Cedolini, Angelo Cagnacci
Summary: This narrative review examines the role of breast and gynecological risk-reduction surgery in BRCA mutation carriers. It discusses the indications, contraindications, complications, technical aspects, timing, economic impact, ethical issues, and prognostic benefits of the most common prophylactic surgical options. BRCA1/2 mutation carriers have a significantly higher risk of developing breast, ovarian, and serous endometrial cancer. Risk-reducing mastectomy and risk-reducing salpingo-oophorectomy are effective in reducing the risk of breast and ovarian cancer but have side effects such as impact on fertility and early menopause. A multidisciplinary team should inform women considering prophylactic surgery about the implications and hormonal therapies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Kadan Yfat, Kotait Mariam, Beiner Mario, Hirte Hal, Josephy Dana, Salman Lina, Bruchim Ilan, Pond Gregory, Helpman Limor
Summary: This study aimed to compare the rates of secondary cytoreduction surgery (SCS) among ovarian cancer patients according to BRCA mutation status. The results showed that patients with germline BRCA mutations were more likely to undergo SCS, possibly due to lower volume disease at recurrence.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Vassiliki Kotoula, Kyriaki Papadopoulou, Ioannis Tikas, Florentia Fostira, Eleni Vrettou, Sofia Chrisafi, Elena Fountzilas, Georgia-Angeliki Koliou, Paraskevi Apostolou, Konstantinos Papazisis, Thomas Zaramboukas, Anthoula Asimaki-Vlachopoulou, Spyros Miliaras, Ananias Ananiadis, Christos Poulios, Ioannis Natsiopoulos, Aris Tsiftsoglou, Efterpi Demiri, George Fountzilas
Summary: This study found that non-malignant tissues from gBRCA1/2 carriers exhibit high allelic imbalance and somatic pathogenic variants, which are only present in cancer carriers. Furthermore, genomic alterations in non-malignant tissues of carriers can worsen, improve, or remain stable over time.