Review
Oncology
Luisa Sanchez-Lorenzo, Diego Salas-Benito, Julia Villamayor, Ana Patino-Garcia, Antonio Gonzalez-Martin
Summary: Epithelial ovarian cancer is the most lethal gynecological cancer, and germline and somatic mutations in breast cancer genes play important roles in genetic counseling and treatment. The use of PARP inhibitors has revolutionized the treatment of ovarian cancer.
Article
Oncology
Catherine S. John, Abigail Fong, Rodrigo Alban, Jessica Gillen, Kathleen M. Moore, Christine S. Walsh, Andrew J. Li, B. J. Rimel, Farin Amersi, Ilana Cass
Summary: The study found that 10% of patients with BRCA-associated EOC were diagnosed with BC after EOC, with the majority of BC occurring within three years. Surveillance for BC is recommended for BRCA carriers, and timely genetic testing is imperative for better triaging of BC screening resources and treatment.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Genetics & Heredity
Giovanna D'Elia, Gemma Caliendo, Maria-Myrsini Tzioni, Luisa Albanese, Luana Passariello, Anna Maria Molinari, Maria Teresa Vietri
Summary: Hereditary prostate cancer in men has the highest heritability, and is associated with breast and ovarian cancer and Lynch syndrome. Through genetic testing, it was found that 30.5% of families carried germline mutations in susceptibility genes, with 8.9% being variants of uncertain significance. BRCA1 and BRCA2 were the most commonly mutated genes, and within BRCA2, exon 11 had the highest mutation frequency.
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
Oncology
Pedro Antunes Meireles, Sofia Fragoso, Teresa Duarte, Sidonia Santos, Catarina Bexiga, Priscila Nejo, Ana Luis, Beatriz Mira, Isalia Miguel, Paula Rodrigues, Fatima Vaz
Summary: This study compares the clinicopathological characteristics and prognosis of breast cancer patients with BRCA1 and BRCA2 mutations with a control group without mutations. The results show that patients with BRCA mutations have a higher risk of relapse and death. Risk-reducing surgeries are associated with lower incidence of relapse and longer overall survival.
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
Laura Cortesi, Federica Domati, Annalisa Guida, Isabella Marchi, Angela Toss, Elena Barbieri, Luigi Marcheselli, Marta Venturelli, Simonetta Piana, Claudia Cirilli, Massimo Federico
Summary: This study evaluated the BRCA mutation rate in families with prostate cancer associated with breast and/or ovarian cancers, finding the Modena criteria to be useful for genetic testing selection. Additionally, a trend towards a worse prognosis was observed in BRCA2 carriers.
CANCER BIOLOGY & MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Yaxuan Liu, Hafdis T. Helgadottir, Pedram Kharaziha, Jungmin Choi, Francesc Lopez-Giraldez, Shrikant M. Mane, Veronica Hoiom, Carl Christofer Juhlin, Catharina Larsson, Svetlana Bajalica-Lagercrantz
Summary: This study aimed to identify new predisposing genes for hereditary breast cancer (HBC) using whole-exome sequencing, but no pathogenic variants in known hereditary cancer-related genes were found. Further analysis suggested that a combination of low- and intermediate-genetic-risk variants might contribute to breast cancer susceptibility in these families.
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
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)
Review
Medical Laboratory Technology
Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben
Summary: Hereditary familial tumors account for 10-15% of all malignancies and offer important research models for personalized therapeutic approaches. Hereditary breast and ovarian cancer (HBOC) syndrome, associated with BRCA1 and BRCA2 mutations, is characterized by specific clinical criteria and can be diagnosed and managed through counseling and genetic testing. BRCA gene mutations have therapeutic implications, particularly in the treatment of breast cancer using PARP inhibitors.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2023)
Letter
Medicine, General & Internal
Kazuki Nozawa, Akiyo Yoshimura, Hiroji Iwata
Summary: The OlympiA trial showed that adjuvant olaparib significantly improved invasive and distant disease-free survival rates for early breast cancer patients with BRCA1 or BRCA2 mutations. It also reduced recurrence of local lesions and lowered the risk of contralateral breast cancer and second primary ovarian cancer through prophylactic surgery.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Genetics & Heredity
Dorra BenAyed-Guerfali, Chamseddine Kifagi, Wala BenKridis-Rejeb, Nihel Ammous-Boukhris, Wajdi Ayedi, Afef Khanfir, Jamel Daoud, Raja Mokdad-Gargouri
Summary: This study identified novel candidate genes associated with HBOC in BRCA-negative families from the South of Tunisia through exome sequencing. It also highlighted candidate genes that showed a significant association with survival. These findings need to be validated in larger cohorts and further investigated for their relevance to HBOC risk.
Article
Oncology
Giovanna Barbero, Roberta Zuntini, Pamela Magini, Laura Desiderio, Michela Bonaguro, Anna Myriam Perrone, Daniela Rubino, Mina Grippa, Antonio De Leo, Claudio Ceccarelli, Lea Godino, Sara Miccoli, Simona Ferrari, Donatella Santini, Pierandrea De Iaco, Claudio Zamagni, Giovanni Innella, Daniela Turchetti
Summary: Ovarian cancer is a highly lethal malignancy and genetic defects, including BRCA1 and BRCA2 alterations, are common in patients. A comprehensive study of 30 ovarian cancer patients revealed that 23% had BRCA alterations detectable by clinical testing, while 17% showed epigenetic silencing of BRCA1 in the tumor. Patients with BRCA deficit had greater genomic instability but better survival compared to those without BRCA deficit.
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)
Article
Genetics & Heredity
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
JOURNAL OF GENETIC COUNSELING
(2018)
Article
Oncology
Janice Y. Tsoh, Elisa K. Tong, Angela U. Sy, Susan L. Stewart, Ginny L. Gildengorin, Tung T. Nguyen
Article
Oncology
Dao M. Fang, Susan L. Stewart
Article
Oncology
Angela Sun, Janice Y. Tsoh, Elisa K. Tong, Joyce Cheng, Edward A. Chow, Susan L. Stewart, Tung T. Nguyen
Article
Oncology
Angela U. Sy, Eunjung Lim, Lana Sue Ka'opua, Merle Kataoka-Yahiro, Yumiko Kinoshita, Susan L. Stewart
Article
Oncology
Clifford G. Tepper, Julie H. T. Dang, Susan L. Stewart, Dao M. Fang, Kimberly A. Wong, Stephenie Y. Liu, Ryan R. Davis, Doan Y. Dao, Jeffrey P. Gregg, Natalie J. Torok, Moon S. Chen
Article
Genetics & Heredity
Galen Joseph, Robin Lee, Rena J. Pasick, Claudia Guerra, Dean Schillinger, Sara Rubin
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2019)
Article
Public, Environmental & Occupational Health
Alyssa Nickell, Susan L. Stewart, Nancy J. Burke, Claudia Guerra, Elly Cohen, Catherine Lawlor, Susan Colen, Janice Cheng, Galen Joseph
PATIENT EDUCATION AND COUNSELING
(2019)
Article
Genetics & Heredity
Galen Joseph, Michael C. Leo, Leslie Riddle, Claudia Guerra, Laura M. Amendola, Marian J. Gilmore, Bradley A. Rolf, Michael O. Dorschner, Jamilyn Zepp, Barbara B. Biesecker, Mikaella Caruncho, Jessica Ezzell Hunter, Erin Keast, Hannah S. Lewis, Devan Duenas, Tia Kauffman, Joanna E. Bulkley, Katherine P. Anderson, Gail P. Jarvik, Katrina A. B. Goddard, Benjamin S. Wilfond
Summary: This study tested the effectiveness of a genetic counseling intervention called ARIA, which focuses on enhancing relationship-building, patient engagement, and comprehension. The results showed that ARIA improved communication satisfaction and relationship-building, particularly for patients with lower health literacy and Spanish-speakers who use a medical interpreter.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Galen Joseph, Nangel M. M. Lindberg, Claudia Guerra, Cindy Hernandez, Leah S. S. Karliner, Marian J. J. Gilmore, Jamilyn Zepp, Bradley A. A. Rolf, Mikaella Caruncho, Leslie Riddle, Tia L. L. Kauffman, Michael C. C. Leo, Benjamin S. S. Wilfond
Summary: The objective of this study was to identify specific interpretation challenges and errors in exome sequencing in the context of genetic counseling. Common interpretation errors and errors specific to genetic counseling concepts were found, which may impact the accuracy of risk assessment and patient understanding. These errors highlight the need for additional training in genetics and healthcare specialization for interpreters, as well as guidance for patients in working effectively with interpreters.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Veterinary Sciences
Ryan G. Toedebusch, Ning-Wei Wei, Kulani T. Simafranca, Jennie A. Furth-Jacobus, Ingrid Brust-Mascher, Susan L. Stewart, Peter J. Dickinson, Kevin D. Woolard, Chai-Fei Li, Karen M. Vernau, Frederick J. Meyers, Christine M. Toedebusch
Summary: Canine oligodendrogliomas are fatal brain tumors, and glioma-associated microglia/macrophages (GAMs) may contribute to their progression. However, the immune microenvironment in oligodendrogliomas differs from that in astrocytomas.
VETERINARY SCIENCES
(2023)
Article
Genetics & Heredity
Chenery Lowe, Lori Erby, Galen Joseph, Barbara Biesecker, Debra L. Roter
Summary: This study assessed the acceptability of an online communication training program for genetic counseling graduate students. Most students found the training modules useful and relevant to clinical practice. Some students reported it being relatively easy to use the learned skills in actual clinical cases.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Genetics & Heredity
Leslie Riddle, Galen Joseph, Mikaella Caruncho, Barbara Ann Koenig, Jennifer Elyse James
Summary: Polygenic risk scores (PRS) have the potential to improve clinical risk assessments, but concerns about their clinical validity and implementation readiness persist. A study was conducted to examine how unaffected participants in a breast cancer screening trial understood and used PRS in making screening and risk-reduction decisions. Results showed that participants conceptually understood PRS but varied in their value and meaning attributed to the risk estimate. Financial and insurance barriers were reported, and participants were generally not interested in risk-reducing medications. These findings contribute to the understanding of translating PRS to clinical care and raise ethical concerns in a population screening context.
JOURNAL OF COMMUNITY GENETICS
(2023)
Article
Communication
Karlena Lara-Otero, Jon Weil, Claudia Guerra, Janice Ka Yan Cheng, Janey Youngblom, Galen Joseph
HEALTH COMMUNICATION
(2019)
Article
Genetics & Heredity
Janice Ka Yan Cheng, Claudia Guerra, Rena J. Pasick, Dean Schillinger, Judith Luce, Galen Joseph
JOURNAL OF COMMUNITY GENETICS
(2018)