Article
Oncology
Lizeth I. Tamayo, Fabian Perez, Angelica Perez, Miriam Hernandez, Alejandra Martinez, Xiaosong Huang, Valentina A. Zavala, Elad Ziv, Susan L. Neuhausen, Luis G. Carvajal-Carmona, Ysabel Duron, Laura Fejerman
Summary: Breast cancer is a major concern among Hispanic/Latina women in the U.S. Genetic counseling has been shown to be effective in informing women about their cancer risk, but Hispanic/Latina women are less likely to undergo genetic testing. In an effort to improve awareness and access to resources, a program was developed to educate monolingual Spanish-speaking individuals in California about hereditary breast cancer. The program successfully identified women in need of genetic counseling and highlighted the need for additional support in the Hispanic/Latina community.
FRONTIERS IN ONCOLOGY
(2022)
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
Traci N. Bethea, Heather M. Ochs-Balcom, Elisa V. Bandera, Alicia Beeghly-Fadiel, Fabian Camacho, Deanna Chyn, Emily K. Cloyd, Holly R. Harris, Charlotte E. Joslin, Evan Myers, Patricia G. Moorman, Lauren C. Peres, Will Rosenow, Veronica W. Setiawan, Anna H. Wu, Lynn Rosenberg, Joellen M. Schildkraut
Summary: Family history of ovarian cancer and breast cancer, especially in first-degree relatives, is strongly associated with high-grade serous ovarian carcinoma in both African American and white women, but the impact may vary by histotype among African American women.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Medicine, General & Internal
QiongFei Zheng, Qinli Ying, ZhengJu Ren, Qin Zhang, DongLiang Lu, HongBai Wang, WuRan Wei
Summary: Family history of prostate cancer in first-degree relatives is associated with an increased risk of breast cancer, with consistent results in subgroup analysis. Compared with no family history of prostate cancer, history of prostate cancer in first-degree relatives is associated with a slight risk of ovarian cancer. Having a family history of prostate cancer among siblings may increase the risk of ovarian cancer by 17%, while no significant association was found between family history of prostate cancer among parents and the risk of ovarian cancer.
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
Anna Ofverholm, Therese Toerngren, Anna Rosen, Brita Arver, Zakaria Einbeigi, Karin Haraldsson, Anne Kinhult Stahlbom, Ekaterina Kuchinskaya, Annika Lindblom, Beatrice Melin, Ylva Paulsson-Karlsson, Marie Stenmark-Askmalm, Emma Tham, Anna von Wachenfeldt, Anders Kvist, Ake Borg, Hans Ehrencrona
Summary: This study assessed the genetic variation in a large cohort of women with suspected HBOC and found that extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield. This has implications for genetic counseling and clinical guidelines.
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
Yuko Minoura, Masato Takahashi, Hideki Maeda, Sayuri Kuwahara, Hanae Tachikawa, Mitsugu Yamamoto, Nobumoto Tomioka, Kenichi Watanabe, Akihiro Sakurai
Summary: When considering BRCA1/2 genetic testing, family history of prostate, pancreatic, and skin cancers should also be examined as HBOC-related cancers to provide testing for patients who would benefit from it.
Article
Oncology
Ava Kwong, Vivian Y. Shin, Cecilia Y. S. Ho, Aleena Khalid, Chun Hang Au, Karen K. L. Chan, Hextan Y. S. Ngan, Tsun-Leung Chan, Edmond S. K. Ma
Summary: Breast cancer is the most commonly diagnosed cancer in women globally, with BRCA1 and BRCA2 mutations associated with increased risk. The PALB2 mutation is also linked to increased risk of breast cancer and varies in prevalence among different ethnic groups. The study found that PALB2 mutation carriers were more likely to have hormonal positive tumors and familial aggregation of breast cancer.
Article
Oncology
Yanmei Wu, Xiaodong Pan, Juan Dou, Quan Zhang, Yuantong Li, Yuan Sheng, Xishui Liu
Summary: Pathogenic germline mutations in BRCA1 and BRCA2 are associated with increased risk of hereditary breast, ovarian, and other cancers. A novel frameshift mutation in exon10 of BRCA1, potentially linked to the occurrence of HBOC and TNBC, was identified in a Chinese hereditary breast and ovarian cancer family. Surprisingly, cases with this novel BRCA1 mutation displayed good disease-free survival, indicating a potential association with a positive prognosis in HBOC. Further research is needed to confirm these findings.
CLINICAL MEDICINE INSIGHTS-ONCOLOGY
(2021)
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
Health Care Sciences & Services
Florian Reichl, Daniela Muhr, Katharina Rebhan, Gero Kramer, Shahrokh F. Shariat, Christian F. Singer, Yen Y. Tan
Summary: This study evaluated cancer characteristics, family history, and outcomes of male BRCA1/2 mutation carriers, revealing that BRCA2 carriers were most likely to develop cancer and had worse prognosis. Breast cancer was the most common cancer in the study. Not all mutation carriers present with breast cancer or have a family history of cancer, justifying the need for genetic testing.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Oncology
Rodrigo Vicente, Diogo Alpuim Costa, Marina Vitorino, Ana Duarte Mendes, Catarina Santos, Mario Fontes-Sousa
Summary: The pattern of BRCA1 and BRCA2 mutations varies among different populations in HBOC families. In Portuguese HBOC, about 30% of cases can be attributed to BRCA1 or BRCA2 mutations. Three specific variants were identified, accounting for approximately 50% of all pathogenic mutations in the Portuguese population. Characterizing the mutational spectrum in specific populations allows for more efficient and cost-saving screening.
Article
Oncology
Elio Adib, Talal El Zarif, Amin H. Nassar, Elie W. Akl, Sarah Abou Alaiwi, Tarek H. Mouhieddine, Edward D. Esplin, Kathryn Hatchell, Sarah M. Nielsen, Huma Q. Rana, Toni K. Choueiri, David J. Kwiatkowski, Guru Sonpavde
Summary: This study mapped the landscape of P/LP germline variants in the CDH1 gene across various cancers and ethnicities. The results showed significant enrichment of CDH1 P/LP variants in patients with CSRCC, DGC, and LBC across different ethnicities. Future prospective studies are needed to further validate these findings.
BRITISH JOURNAL OF CANCER
(2022)
Article
Public, Environmental & Occupational Health
Marie T. Kumerow, Juan L. Rodriguez, Shifan Dai, Katherine Kolor, Melissa Rotunno, Lucy A. Peipins
Summary: Collecting and evaluating family health history in a clinical setting can help discuss cancer risk, personalize cancer screening recommendations, and identify individuals with a potentially pathogenic variant who may benefit from genetic counseling and testing. A survey showed that around one-third of American adults reported a family history of cancer in a first-degree relative. This highlights the importance of using family history to guide discussions between healthcare providers and patients regarding cancer risk and screening options.
PREVENTIVE MEDICINE
(2022)
Article
Respiratory System
Daniel Ward, Sanne Gortz, Martin Thomson Ernst, Nynne Nyboe Andersen, Susanne K. Kjaer, Jesper Hallas, Steffen Christensen, Christian Fynbo Christiansen, Simone Bastrup Israelsen, Thomas Benfield, Anton Pottegard, Tine Jess
Summary: This nationwide cohort study in Denmark found that exposure to glucocorticoids is associated with increased risks of hospital admission and death in patients with COVID-19. Further research is needed to determine if altered doses of glucocorticoids are necessary for these patients.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Article
Pathology
Eun Young Kang, Joshua Millstein, Gordana Popovic, Nicola S. Meagher, Adelyn Bolithon, Aline Talhouk, Derek S. Chiu, Michael S. Anglesio, Betty Leung, Katrina Tang, Neil Lambie, Marina Pavanello, Annalyn Da-Anoy, Diether Lambrechts, Liselore Loverix, Siel Olbrecht, Christiani Bisinotto, Jesus Garcia-Donas, Sergio Ruiz-Llorente, Monica Yague-Fernandez, Robert P. Edwards, Esther Elishaev, Alexander Olawaiye, Sarah Taylor, Beyhan Ataseven, Andreas du Bois, Philipp Harter, Jenny Lester, Claus K. Hogdall, Sebastian M. Armasu, Yajue Huang, Robert A. Vierkant, Chen Wang, Stacey J. Winham, Sabine Heublein, Felix K. F. Kommoss, Daniel W. Cramer, Naoko Sasamoto, Lilian Van-Wagensveld, Maria Lycke, Constantina Mateoiu, Janine Joseph, Malcolm C. Pike, Kunle Odunsi, Chiu-Chen Tseng, Celeste L. Pearce, Sanela Bilic, Thomas P. Conrads, Arndt Hartmann, Alexander Hein, Michael E. Jones, Yee Leung, Matthias W. Beckmann, Matthias Ruebner, Minouk J. Schoemaker, Kathryn L. Terry, Mona A. El-Bahrawy, Penny Coulson, John L. Etter, Katherine LaVigne-Mager, Juergen Andress, Marcel Grube, Anna Fischer, Nina Neudeck, Greg Robertson, Rhonda Farrell, Ellen Barlow, Carmel Quinn, Anusha Hettiaratchi, Yovanni Casablanca, Ramona Erber, Colin J. R. Stewart, Adeline Tan, Yu Yu, Jessica Boros, Alison H. Brand, Paul R. Harnett, Catherine J. Kennedy, Nikilyn Nevins, Terry Morgan, Peter A. Fasching, Ignace Vergote, Anthony J. Swerdlow, Francisco J. Candido Dos Reis, G. Larry Maxwell, Susan L. Neuhausen, Arantzazu Barquin-Garcia, Francesmary Modugno, Kirsten B. Moysich, Philip J. Crowe, Akira Hirasawa, Florian Heitz, Beth Y. Karlan, Ellen L. Goode, Peter Sinn, Hugo M. Horlings, Estrid Hogdall, Karin Sundfeldt, Stefan Kommoss, Annette Staebler, Anna H. Wu, Paul A. Cohen, Anna DeFazio, Cheng-Han Lee, Helen Steed, Nhu D. Le, Simon A. Gayther, Kate Lawrenson, Paul D. P. Pharoah, Gottfried Konecny, Linda S. Cook, Susan J. Ramus, Linda E. Kelemen, Martin Kobel
Summary: MCM3 mRNA and protein expression levels are associated with survival in patients with tubo-ovarian high-grade serous carcinomas (HGSC), showing a correlation between high MCM3 expression and longer overall survival.
Review
Oncology
Yagmur Sisman, Tine Schnack, Estrid Hogdall, Claus Hogdall
Summary: This systematic review uncovered the current status of patient-derived organoids in predicting the clinical response to chemotherapy for epithelial ovarian cancer (EOC). The findings suggest that organoids can recapitulate tumor heterogeneity and show a positive correlation between clinical outcomes and drug screening results. However, the number of published drug screening studies is limited, requiring further research to establish the reliability of organoids in guiding oncological treatment for EOC.
MOLECULAR AND CLINICAL ONCOLOGY
(2022)
Article
Oncology
Mathilde Gottschau, Susanne K. K. Kjaer, Jakob Hansen Viuff, Allan Jensen, Christian Munk, Annette Settnes, Lene Mellemkjaer
Summary: The results from this study indicate that removing the ovaries prior to cancer diagnosis through benign hysterectomy does not improve the prognosis of breast cancer.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Oncology
Denise G. O'Mahony, Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John, Ute Hamann, Evgeny N. Imyanitov, Irene L. Andrulis, Priyanka Sharma, Mary B. Daly, Christopher R. Hake, Jeffrey N. Weitzel, Anna Jakubowska, Andrew K. Godwin, Adalgeir Arason, Anita Bane, Jacques Simard, Penny Soucy, Maria A. Caligo, Phuong L. Mai, Kathleen B. M. Claes, Manuel R. Teixeira, Wendy K. Chung, Conxi Lazaro, Peter J. Hulick, Amanda E. Toland, Inge Sokilde Pedersen, Susan L. Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Mallika Dhawan, Valentina Zampiga, Rita Danesi, Liliana Varesco, Viviana Gismondi, Valerio Gaetano Vellone, Paul A. James, Ramunas Janavicius, Liene Nikitina-Zake, Finn Cilius Nielsen, Thomas van Overeem Hansen, Tanja Pejovic, Ake Borg, Johanna Rantala, Kenneth Offit, Marco Montagna, Katherine L. Nathanson, Susan M. Domchek, Ana Osorio, Maria J. Garcia, Beth Y. Karlan, Anna De Fazio, David Bowtell, Lesley McGuffog, Goska Leslie, Michael T. Parsons, Thilo Doerk, Lisa-Marie Speith, Elizabeth Santana dos Santos, Alexandre Andre B. A. da Costa, Paolo Radice, Paolo Peterlongo, Laura Papi, Christoph Engel, Eric Hahnen, Rita K. Schmutzler, Barbara Wappenschmidt, Douglas F. Easton, Marc Tischkowitz, Christian F. Singer, Yen Yen Tan, Alice S. Whittemore, Weiva Sieh, James D. Brenton, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Jana Soukupova, Michal Vocka, Georgia Chenevix-Trench, Paul D. P. Pharoah, Antonis C. Antoniou, David E. Goldgar, Amanda B. Spurdle, Kyriaki Michailidou, Marian J. E. Mourits, Fabienne Lesueur
Summary: This study assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity and provided evidence for improved classification and clinical management of carriers.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Chen Wang, Matthew S. Block, Julie M. Cunningham, Mark E. Sherman, Bryan M. McCauley, Sebastian M. Armasu, Robert A. Vierkant, Nadia Traficante, Aline Talhouk, Jennifer A. Doherty, Nadja Pejovic, Martin Kobel, Brooke D. Jorgensen, Dale W. Garsed, Sian Fereday, Susan J. Ramus, Dinuka Ariyaratne, Michael S. Anglesio, Martin Widschwendter, Tanja Pejovic, Jesus Gonzalez Bosquet, David D. Bowtell, Stacey J. Winham, Ellen L. Goode
Summary: This study analyzed genome-wide DNA methylation in 1,040 cases of tubo-ovarian high-grade serous carcinoma and found a methylation signature associated with shorter time to recurrence. This signature was also correlated with immune cell composition and gene expression molecular subtypes. The findings provide insights into personalized treatment strategies.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Immunology
Estrid V. S. Hogdall, Ib Jarle Christensen, Claus Hogdall
Summary: Bio-and GenomeBank, Denmark (RBGB) is a national infrastructure that includes the Danish CancerBiobank (DCB). This study aimed to assess the collected biological material in DCB for patients with primary ovarian cancer registered in The Danish Gynecologic Cancer Database (DGCD) and investigate the concordance between predicted organ of disease and final diagnosis. Data from DGCD and DCB were extracted. 62% of the patients with primary ovarian cancer (1347 out of 2172) had biological materials stored in DCB. The median age of patients with biological material in DCB was 67 years, while it was 69 years for patients without biological material (p = 0.0001).
Article
Hematology
Marie Fredslund Breinholt, Lone Schejbel, Anne Ortved Gang, Torsten Holm Nielsen, Lars Moller Pedersen, Estrid Hogdall, Peter Norgaard
Summary: In this study, next generation sequencing (NGS) analysis was implemented in routine diagnostic work-up for B-cell non-Hodgkin's lymphoma (B-NHL). Mutations were detected in 94% of samples, and 50% of unclassified cases could be assigned a likely diagnostic subtype based on mutational findings. This gene sequencing approach provides potential diagnostic, prognostic, and predictive value for classification and risk-stratification of B-NHL.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2023)
Article
Oncology
Clarissa L. B. Frandsen, Pernille F. Svendsen, Bugge Nohr, Jakob H. Viuff, Thomas Maltesen, Susanne K. Kjaer, Allan Jensen
Summary: There is a potential association between polycystic ovary syndrome (PCOS) and epithelial ovarian tumors due to shared risk factors. However, previous studies have shown conflicting results and methodological limitations. A population-based cohort study in Denmark was conducted to investigate this association. While there was no overall association, postmenopausal women with PCOS had an increased risk of ovarian cancer and women with PCOS had an increased risk of serous borderline ovarian tumors compared to those without PCOS. Larger studies with longer follow-up are needed to confirm these findings.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Oncology
Simon Ezban Grutzmeier, Bojan Kovacevic, Peter Vilmann, Charlotte Vestrup Rift, Linea Cecilie Melchior, Morten Orebo Holmstrom, Lene Brink, Hazem Hassan, John Gasdal Karstensen, Hanne Grossjohann, Deepthi Chiranth, Anders Toxvaerd, Carsten Palnaes Hansen, Estrid Hogdall, Jane Preuss Hasselby, Pia Klausen
Summary: Pancreatic cancer is a devastating disease with a low survival rate. Patient-derived 3D cultures have shown promise for personalized treatment, but most models do not include supportive tissue cells. In this study, a co-culture model was created using cells from endoscopic biopsies, showing interaction between tumor and stromal cells. The study also highlights the need to include cancer-associated fibroblasts (CAFs) in models, as CAFs impact treatment response.
Article
Immunology
Estrid V. S. Hogdall, Ib Jarle Christensen, Claus Hogdall
Summary: Bio-and GenomeBank, Denmark (RBGB) is a nationwide infra-structure. Danish Cancer Biobank (DCB) is a biobank in RBGB. The aim of this study is to evaluate the degree of biological material collected in DCB for primary ovarian cancer patients and investigate the concordance between presumed diagnosis and final diagnosis. Data extraction from relevant databases showed that biological materials were present for 62% of primary ovarian cancer patients. The optimal possibility for translational research and the potential need for additional biomarkers to aid in patient treatment were also highlighted.
Article
Medicine, General & Internal
Lau K. Vestergaard, Nicolai S. Mikkelsen, Douglas V. N. P. Oliveira, Tim S. Poulsen, Estrid V. Hoegdall
Summary: The implementation of next-generation sequencing (NGS) in clinical oncology allows for the analysis of multiple cancer-associated genes. Detection of pathogenic mutations is crucial for disease management. Obtaining the mutational profile is challenging in samples with low DNA yields, such as FFPE tissue and needle biopsies. This study demonstrates that vacuum centrifugation can concentrate low-yield DNA samples without compromising the mutational profile.
Article
Biochemistry & Molecular Biology
Patrick H. D. Petersen, Joanna Lopacinska-Jorgensen, Claus K. Hogdall, Estrid V. Hogdall
Summary: This study aimed to identify microRNAs that are stably expressed in the plasma of HGSOC and benign ovarian tumor patients. RNA was isolated from plasma samples of 60 HGSOC and 48 benign patients, and RT-qPCR was performed to analyze the stability of 40 microRNAs and 8 controls. It was found that hsa-miR-126-3p and hsa-miR-23a-3p were the most stable miRNAs in HGSOC samples, while hsa-miR-191-5p and hsa-miR-27a-3p were the most stable in benign samples.
MOLECULAR BIOLOGY REPORTS
(2023)
