Article
Biochemistry & Molecular Biology
Shuchun Li, Jing Sun, Junjun Ma, Cixiang Zhou, Xiao Yang, Sen Zhang, Ling Huang, Hongtao Jia, Yanfei Shao, Enkui Zhang, Minhua Zheng, Qian Zhao, Lu Zang
Summary: This study identifies and describes a novel tumor suppressor lncRNA called LENGA and its biological function and molecular mechanism in gastric cancer. It also highlights the potential importance of targeting the LENGA/BRD7/TP53 axis in gastric cancer treatment.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Hannah E. Neiger, Emily L. Siegler, Yihui Shi
Summary: BRCA1 and BRCA2 are tumor suppressor genes crucial in DNA repair mechanisms. Synthetic lethality, caused by simultaneous perturbations of two genes, can help identify new therapeutic options for BRCA1/2 mutations. PARP inhibitor Olaparib has shown success as the first synthetic lethality-based therapy for BRCA1/2 breast and ovarian cancer, but drug resistance poses a challenge for targeted cancer therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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.
Article
Obstetrics & Gynecology
Kathryn J. Huber-Keener
Summary: The risk of developing breast cancer is multifactorial, but family history and genetic mutations are important fixed variables. It is necessary to identify patients at risk for hereditary breast cancer and understand how to manage that risk.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2022)
Article
Oncology
Bhavana Chapman, Diane Liu, Yu Shen, Oluwafikayo O. Olamigoke, David S. Lakomy, Angelica M. Gutierrez Barrera, Shane R. Stecklein, Gabriel O. Sawakuchi, Scott J. Bright, Isabelle Bedrosian, Jennifer K. Litton, Benjamin D. Smith, Wendy A. Woodward, George H. Perkins, Karen E. Hoffman, Michael C. Stauder, Eric A. Strom, Banu K. Arun, Simona F. Shaitelman
Summary: Multigene panel testing can increase the detection of germline mutations in breast cancer patients. The oncologic outcomes and toxicity of radiation therapy in patients with pathogenic variants (PVs) were analyzed in this study. The results showed that the outcomes and toxicities after radiation therapy were similar between patients with PV mutations and those without detectable mutations, supporting the use of adjuvant radiation therapy as a standard of care.
INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
(2022)
Review
Oncology
Diana Goncalves, Ana Salome Pires, Ines A. Marques, Ines Gomes, Gabriela Sousa, Maria Filomena Botelho, Ana Margarida Abrantes
Summary: Individuals with hereditary breast and ovarian cancer (HBOC) syndrome have a higher risk of developing cancer compared to the general population, but studies on the association between exposure to ionizing radiation and cancer risk have inconsistent results.
Article
Oncology
Alexey Larionov, Eleanor Fewings, James Redman, Mae Goldgraben, Graeme Clark, John Boice, Patrick Concannon, Jonine Bernstein, David V. Conti, Marc WECARE Study Collaborative Grp, Marc Tischkowitz
Summary: In this study, researchers used genetic sequencing technologies to investigate the hereditary causes of second breast cancer in individuals who do not have alterations in the main breast cancer genes (BRCA1, BRCA2 and PALB2). They found that younger women with second breast cancers had a higher number of inherited gene alterations compared to women with only one breast cancer. This study improves our understanding of the hereditary contribution to second breast cancers.
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)
Article
Oncology
Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee
Summary: This article presents seven cases of double heterozygosity (DH) for BRCA1/2 identified in a Korean institution, and compares the characteristics and phenotype of DH individuals with those carrying a single BRCA variant. The study found that DH patients develop breast cancer at a younger age and are more likely to have triple-negative breast cancer and higher grade cancers compared to patients with a single BRCA2 variant. These findings have important implications for the early diagnosis and treatment of breast cancer.
CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Giovanni Corso, Antonia Girardi, Mariarosaria Calvello, Sara Gandini, Aurora Gaeta, Monica Marabelli, Francesca Magnoni, Paolo Veronesi, Aliana Guerrieri-Gonzaga, Bernardo Bonanni
Summary: This study investigates the impact of different subtypes of pathogenic BRCA variants on the prognosis and survival of breast cancer patients. The findings suggest that the missense/splicing subtypes of BRCA1/2 mutations are associated with a lower risk of breast cancer recurrence.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Genetics & Heredity
Trong-Nhan N. Le, Van-Khanh Tran, Thu-Thuy Nguyen, Nam S. Vo, Tham H. Hoang, Hoang-Long Vo, Thanh-Hai T. Nguyen, Phuoc-Dung Nguyen, Viet-Tien Nguyen, Thanh-Van Ta, Huy-Thinh Tran
Summary: This study screened for BRCA1 and BRCA2 gene mutations in Vietnamese breast and ovarian cancer patients, identifying multiple mutations and establishing a risk score associated with carrier status and family history. The findings have implications for planning screening programs and genetic testing in this population.
Article
Oncology
Jiaqi Liu, Xin Wang, Lin Dong, Xin Huang, Hengqiang Zhao, Jiaxin Li, Shengkai Huang, Pei Yuan, Wenyan Wang, Jie Wang, Zeyu Xing, Ziqi Jia, Yue Ming, Xiao Li, Ling Qin, Gang Liu, Jiang Wu, Yiqun Li, Menglu Zhang, Kexin Feng, Jianming Ying, Xiang Wang
Summary: Up to 10% of breast cancer cases are hereditary and caused by pathogenic variants in cancer predisposition genes, which show distinct clinical features and imaging manifestations. Among breast cancer patients in China who underwent genetic testing, 11.6% were found to have pathogenic variants in cancer predisposition genes, with BRCA1 and BRCA2 being the most common. Ultrasound had a higher detection rate than mammograms, but MRI showed the highest sensitivity and lowest underestimation rate in mutation carriers, with supplemental ultrasound or mammograms not adding significant value to MRI for detecting breast cancer.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Vanessa Petry, Renata Colombo Bonadio, Laura Testa, Daniela JBH. Cohn, Allyne Cagnacci, Roberta G. Campos, Maria Candida Bv Fragoso, Maria del Pilar Estevez-Diz
Summary: This study analyzed the prognosis of breast cancer in patients with germline TP53 pathogenic variants. The results showed no significant difference in recurrence-free survival and breast cancer-specific survival between patients with mTP53 and the control group.
Article
Oncology
Renata Lazari Sandoval, Natalia Polidorio, Ana Carolina Rathsam Leite, Mariana Cartaxo, Janina Pontes Pisani, Carla Vanessa Quirino, Loureno Cezana, Natalya Goncalves Pereira, Allan Andresson Lima Pereira, Benedito Mauro Rossi, Maria Isabel Achatz
Summary: The phenotype of breast cancer in Brazilian female carriers of Li-Fraumeni syndrome, particularly those with the TP53 p.R337H variant, is similar to that of carriers with other TP53 pathogenic variants. The age at onset of the disease is older than the general population but still relatively young compared to other breast cancer cases.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Dongmei Chen, Chenyang Zhang, Mengqi Yuan, Ying Zhang, Qing Liu, Donggui Wan
Summary: This article reports a case of a 14-year-old female with triple-negative breast cancer and a family history of malignant tumors. The case highlights the importance of genetic testing in early onset breast cancer to confirm inherited risk and recommends genetic testing for relatives.
FRONTIERS IN ONCOLOGY
(2022)