Article
Oncology
Maria Colomba Comes, Francesca Arezzo, Gennaro Cormio, Samantha Bove, Angela Calabrese, Annarita Fanizzi, Anila Kardhashi, Daniele La Forgia, Francesco Legge, Isabella Romagno, Vera Loizzi, Raffaella Massafra
Summary: This study aims to early identify high-risk BRCA-mutated patients and determine the appropriate timing for performing RRSO using clinical data and explainable machine learning methods. The results showed that the ensemble model achieved good performance in handling imbalanced data, with an accuracy of 83.2%, specificity of 85.3%, sensitivity of 57.1%, G-mean of 69.8%, and AUC of 71.1%.
FRONTIERS IN ONCOLOGY
(2023)
Article
Cell Biology
Canhui Cao, Ruidi Yu, Wenjian Gong, Dan Liu, Xiaoxue Zhang, Yong Fang, Yu Xia, Wei Zhang, Qinglei Gao
Summary: Our study analyzed the genome mutation features of EC and EnOC, revealing similar but different characteristics between them. Additionally, higher frequencies of BRCA-associated mutations were observed in EnOC, which also showed increased sensitivity to PARP inhibitors.
Article
Medicine, General & Internal
Chiara Cassani, Chiara Rossi, Cristina Angela Camnasio, Mario Urtis, Giacomo Fiandrino, Maurizia Grasso, Francesca Zanellini, Marco Lucioni, Gioacchino D'Ambrosio, Alessandro Di Toro, Margherita Rossi, Marianna Roccio, Alberta Ferrari, Simona Secondino, Rossella Elena Nappi, Eloisa Arbustini, Marco Paulli, Arsenio Spinillo, Stefania Cesari
Summary: This study aimed to evaluate the pathological findings of risk-reducing surgery in different gene mutation carriers, compared to a control group. The results showed that occult invasive serous carcinoma and serous tubal intraepithelial carcinoma were only found in BRCA1/2 mutation carriers, while no neoplastic lesion was diagnosed in the non-BRCA group or in the control group.
Article
Oncology
Rachel Michaelson-Cohen, Shira Gabizon-Peretz, Shunit Armon, Naama Srebnik-Moshe, Pnina Mor, Ariela Tomer, Ephrat Levy-Lahad, Shani Paluch-Shimon
Summary: This study found that short-term post-RRSO HRT use was associated with a threefold risk of BC in BRCA1/BRCA2 carriers older than 45 years. These results suggest that risk may be related to time of exposure to HRT around the natural age of menopause, even among carriers of BRCA1/2.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Oncology
Helena Abreu do Valle, Paramdeep Kaur, Janice S. Kwon, Rona Cheifetz, Lesa Dawson, Gillian E. Hanley
Summary: The study showed that women with BRCA mutations who underwent prophylactic oophorectomy did not have an increased risk of cardiovascular disease, but they were less likely to be diagnosed with predisposing conditions compared to women without BRCA mutations.
GYNECOLOGIC ONCOLOGY
(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
Genetics & Heredity
Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W. Glenn McCluggage, Helen Hanson, Naveena Singh, D. Gareth Evans, Usha Menon, Ranjit Manchanda
Summary: The study identified seven interconnected themes integral to surgical decision making among BRCA carriers considering prophylactic surgeries, and highlighted that RRESDO offers premenopausal women a degree of ovarian cancer risk reduction while avoiding early menopause, particularly for those concerned about the impacts of menopause. Centralised care for high-risk women at specialist familial gynaecological cancer risk management centers is recommended to provide better-quality, streamlined, holistic multidisciplinary care.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Surgery
Sumin Chae, Eun-Kyu Kim, Ye Rang Jang, Angela Soeun Lee, Seul Ki Kim, Dong Hoon Suh, Kidong Kim, Jae Hong No, Yong-Beom Kim, Sung-Won Kim, Eunyoung Kang
Summary: This study found no significant differences in mental QOL, psychosocial status, sexual function, and menopausal symptoms between the RRSO and non-RRSO groups among BRCA mutation carriers. RRSO uptake only had a negative impact on physical QOL.
ASIAN JOURNAL OF SURGERY
(2021)
Article
Oncology
Naela Agha, Bader Alshamsan, Sharifa Al-Farsi, Heba Aly Ateya, Fahad A. Almugbel, Hazem Abdullah Alotaibi, Ayman Omar, Amgad Shahin Mohamed, Hanan Alharthy, Tusneem Elhassan, Hany Salem, Hamed Alhusaini
Summary: This study aims to determine the frequency, pattern, and impact of BRCA gene mutations on patient characteristics and outcomes in Saudi women with ovarian cancer (OC). The study found a higher prevalence of BRCA mutations in Saudi women with OC compared to regional and international figures and observed better clinical outcomes in women with BRCA mutations.
Article
Multidisciplinary Sciences
Hidetaka Nomura, Akiko Abe, Atsushi Fusegi, Teruyuki Yoshimitsu, Satoki Misaka, Atsushi Murakami, Tsuyoshi Matsumoto, Shiho Tsumura, Motoko Kanno, Yoichi Aoki, Sachiho Netsu, Makiko Omi, Terumi Tanigawa, Sanshiro Okamoto, Kohei Omatsu, Mayu Yunokawa, Hiroyuki Kanao, Eri Habano, Hiromi Arakawa, Keika Kaneko, Arisa Ueki, Yurie Haruyama, Hitoshi Inari, Takayuki Ueno
Summary: The impact of the coverage of risk-reducing salpingo-oophorectomy (RRSO) and mastectomy (RRM) as well as genetic testing for BRCA pathogenic variants by the national insurance system in Japan was investigated. It was found that the number of women undergoing RRSO increased after its coverage by the national insurance system, along with an increase in women undergoing surgery for breast cancer. Additionally, there was a significant increase in the diagnosis of BRCA pathogenic variants.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Masayuki Sekine, Takayuki Enomoto, Masami Arai, Hiroki Den, Hiroyuki Nomura, Takeshi Ikeuchi, Seigo Nakamura
Summary: This study investigated the age at diagnosis of ovarian cancer (OC) patients among BRCA1 and BRCA2 mutation carriers to determine the optimal timing for risk-reducing salpingo-oophorectomy (RRSO). The results showed that carriers of BRCA1 and BRCA2 mutations were diagnosed with OC at a relatively older age. However, no significant differences were found among carriers of different types of BRCA1 or BRCA2 mutations.
JOURNAL OF GYNECOLOGIC ONCOLOGY
(2022)
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
Masayuki Sekine, Koji Nishino, Takayuki Enomoto
Summary: The article discusses the use of BRCA genetic testing and HRD testing as companion diagnoses before starting PARP inhibitor treatment. However, the cutoff values for HRD testing vary in different clinical trials, and the prevalence of gBRCA pathogenic variants differs among histological types and countries. RRSO may be beneficial in reducing the risk of breast cancer for BRCA2 carriers but not for BRCA1 carriers.
Article
Oncology
Renee Cowan, Silvana Pedra Nobre, Nisha Pradhan, Maya Yasukawa, Qin C. Zhou, Alexia Iasonos, Robert A. Soslow, Angela G. Arnold, Magan Trottier, Amanda Catchings, Kara Long Roche, Ginger Gardner, Mark Robson, Nadeem R. Abu Rustum, Carol Aghajanian, Karen Cadoo
Summary: The study found that approximately 4.7% of women with BRCA mutations had incidentally detected occult invasive ovarian cancer during risk-reducing salpingo-oophorectomy. Patients with early-stage disease had excellent survival outcomes.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Oncology
C. Bethan Powell, Cecile Laurent, Christine Garcia, Elizabeth Hoodfar, Audrey Karlea, Christine Kobelka, Jaimie Lee, Janise Roh, Lawrence H. Kushi
Summary: The aim of this study is to compare breast and ovarian cancer risk reduction strategies in the clinical management of women with non-BRCA hereditary breast and ovarian cancer (HBOC) pathogenic variants compared to those with pathogenic BRCA variants or negative germline panel testing. The results show that surgical and surveillance strategies are underutilized for HBOC pathogenic variants, but there is concordance of uptake of preventive strategies with specific risks associated with non-BRCA variants.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Endocrinology & Metabolism
Kristin K. Clemens, Alexandra Ouedraogo, Danielle M. Nash, Amit X. Garg, Salimah Z. Shariff
CANADIAN JOURNAL OF DIABETES
(2019)
Article
Allergy
Dhenuka Radhakrishnan, Salimah Z. Shariff, Teresa To
Article
Immunology
Kyla L. Naylor, Gregory A. Knoll, Salimah Z. Shariff, Eric McArthur, Amit X. Garg, Carl Van Walraven, Peter C. Austin, Megan K. McCallum, Robert R. Quinn, Vivian S. Tan, S. Joseph Kim
Article
Anesthesiology
Philip M. Jones, Britney N. Allen, Richard A. Cherry, Luc Dubois, Kelly N. Vogt, Salimah Z. Shariff, Krista M. Bray Jenkyn, Sheila Riazi, Duminda N. Wijeysundera
CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE
(2019)
Article
Oncology
Steven Latosinsky, Krista M. Bray, Lihua Li, Salimah Z. Shariff
Article
Pharmacology & Pharmacy
Marcus Povitz, Lihua Li, Karishma Hosein, Salimah Shariff, Marco Mura
PULMONARY PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Psychiatry
Rebecca Rodrigues, Arlene G. MacDougall, Guangyong Zou, Michael Lebenbaum, Paul Kurdyak, Lihua Li, Salimah Z. Shariff, Kelly K. Anderson
SCHIZOPHRENIA RESEARCH
(2019)
Article
Oncology
Phillip S. Blanchette, Melody Lam, Lucie Richard, Britney Allen, Salimah Z. Shariff, Ted Vandenberg, Kathleen I. Pritchard, Kelvin K. W. Chan, Alexander V. Louie, Danielle Desautels, Jacques Raphael, Craig C. Earle
BREAST CANCER RESEARCH AND TREATMENT
(2020)
Article
Obstetrics & Gynecology
Samuel C. Siu, Melody Lam, Britney Allen, Lucie Richard, Salimah Z. Shariff, Pallav Garg, Candice K. Silversides, Joel G. Ray
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2019)
Article
Economics
Nibene H. Some, Rose Anne Devlin, Nirav Mehta, Greg Zaric, Lihua Li, Salimah Shariff, Bachir Belhadji, Amardeep Thind, Amit Garg, Sisira Sarma
Article
Nursing
Melody Lam, Lihua Li, Kelly K. Anderson, Salimah Z. Shariff, Cheryl Forchuk
JOURNAL OF PSYCHIATRIC AND MENTAL HEALTH NURSING
(2020)
Article
Gastroenterology & Hepatology
Adam Rahman, Vipul Jairath, Brian G. Feagan, Reena Khanna, Salimah Z. Shariff, Britney N. Allen, Krista Bray Jenkyn, Christopher Vinden, Jenny Jeyarajah, Mahmoud Mosli, Eric Benchimol
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Psychiatry
Rebecca Rodrigues, Arlene G. MacDougall, Guangyong Zou, Michael Lebenbaum, Paul Kurdyak, Lihua Li, Salimah Z. Shariff, Kelly K. Anderson
EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
(2020)
Article
Clinical Neurology
Luciano A. Sposato, Melody Lam, Britney Allen, Salimah Z. Shariff, Gustavo Saposnik
Article
Geriatrics & Gerontology
Kristin K. Clemens, Alexandra Ouedraogo, Mark Speechley, Lucie Richard, Jenny Thain, Salimah Z. Shariff
CANADIAN GERIATRICS JOURNAL
(2019)