Article
Oncology
Annelie Augustinsson, Martin P. Nilsson, Carolina Ellberg, Ulf Kristoffersson, Hakan Olsson, Hans Ehrencrona
Summary: The study in Sweden aimed to evaluate a Traceback strategy for cancer patients who did not undergo genetic testing when first diagnosed with breast cancer. Out of 409 women diagnosed with breast cancer at <= 35 years between 2000 and 2017, 63 had not been tested before and were offered genetic analysis. Forty-six percent underwent genetic testing, identifying pathogenic variants in BRCA1 (n = 2), CHEK2 (n = 1), and ATM (n = 1). The main reason for not undergoing testing previously was lack of information from physicians. Study participants were generally satisfied with the approach of written pre-test information and in-person counseling for carriers of pathogenic variants.
BREAST CANCER RESEARCH AND TREATMENT
(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
Oncology
Yomali Ferreyra, Gina Rosas, Alicia M. Cock-Rada, Jhajaira Araujo, Leny Bravo, Franco Doimi, Jhoysi Casas, Maria de los Angeles Clavo, Joseph A. Pinto, Carolina Belmar-Lopez
Summary: This retrospective study describes the prevalence of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain/unknown significance (VUS) in BRCA1 and BRCA2 genes in Peruvian breast and ovarian cancer patients. The study found that 14.7% of breast cancer patients and 20.7% of ovarian cancer patients carried P/LP variants in BRCA1/2. The most frequent pathogenic variants were c.2105dupT in BRCA1 and c.8023A>G in BRCA2.
FRONTIERS IN ONCOLOGY
(2023)
Article
Oncology
Marek Szwiec, Joanna Tomiczek-Szwiec, Wojciech Kluzniak, Dominika Wokolorczyk, Karolina Osowiecka, Robert Sibilski, Malgorzata Wachowiak, Jacek Gronwald, Helena Gronwald, Jan Lubinski, Cezary Cybulski, Steven A. Narod, Tomasz Huzarski
Summary: The study found that mutations in PALB2 and CHEK2 genes may be associated with male breast cancer in Poland. It is recommended that a molecular test for common mutations in BRCA1, BRCA2, PALB2, and CHEK2 should be offered to male breast cancer patients in Poland.
Review
Oncology
Zhewen Feng, Xiaobao Yang, Mingwei Tian, Na Zeng, Zhigang Bai, Wei Deng, Yanyan Zhao, Jianru Guo, Yingchi Yang, Zhongtao Zhang, Yun Yang
Summary: This study conducted a systematic review and meta-analysis to investigate the association between BRCA1 and BRCA2 gene mutations and colorectal cancer risk. The results showed a significant increase in the frequency of BRCA1 and BRCA2 mutations in colorectal cancer patients. Therefore, the study suggests that BRCA genes could be potential candidates for inclusion in colorectal cancer genetic testing panels.
Article
Medicine, General & Internal
Tauana Rodrigues Nagy, Simone Maistro, Giselly Encinas, Maria Lucia Hirata Katayama, Glaucia Fernanda de Lima Pereira, Nelson Gaburo-Junior, Lucas Augusto Moyses Franco, Ana Carolina Ribeiro Chaves de Gouvea, Maria del Pilar Estevez Diz, Luiz Antonio Senna Leite, Maria Aparecida Azevedo Koike Folgueira
Summary: The study found that the frequency of gBRCA mutations in postmenopausal Brazilian breast cancer patients was 10.2%, and the frequency of PIK3CA somatic mutations was 37% in postmenopausal patients and 17% in young patients. Additionally, 25% of both BRCA1/BRCA2 mutation carriers and non-carriers had PIK3CA somatic mutations, suggesting a potential association between the two types of mutations.
Article
Oncology
Eleni Zografos, Anna-Maria Korakiti, Angeliki Andrikopoulou, Ioannis Rellias, Constantine Dimitrakakis, Spyridon Marinopoulos, Aris Giannos, Antonios Keramopoulos, Nikolaos Bredakis, Meletios-Athanasios Dimopoulos, Flora Zagouri
Summary: This study analyzed the frequency of genetic predisposition in 20 PABC patients, revealing that 35% of patients carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2), indicating a potential significant role of genetic susceptibility in pregnancy-associated breast cancer.
Article
Multidisciplinary Sciences
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O'Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomaeki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Bialkowska, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Daniele Campa, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Christine L. Clarke, J. Margriet Collee, Don M. Conroy, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Thilo Dork, Isabel dos-Santos-Silva, Alison M. Dunning, Miriam Dwek, Diana M. Eccles, A. Heather Eliassen, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M. Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Mia M. Gaudet, Simon A. Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna Gonzalez-Neira, Mark H. Greene, Pascal Guenel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Patricia A. Harrington, Steven N. Hart, Wei He, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Darling J. Horcasitas, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, Agnes Jager, Anna Jakubowska, Paul A. James, Uffe Birk Jensen, Esther M. John, Michael E. Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y. Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I. Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W. Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernandez, Jennifer T. Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L. Milne, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Katie M. O'Brien, Olufunmilayo I. Olopade, Janet E. Olson, Hakan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T. Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D. P. Pharoah, Kelly-Anne Phillips, Eric C. Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P. Sandler, Regina Santella, Maren T. Scheuner, Marjanka K. Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C. Southey, John J. Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Mary Beth Terry, Alex Teule, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Alison H. Trainer, Therese Truong, Nadine Tung, Celine M. Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Sue K. Park, Mads Thomassen, Kenneth Offit, Rita K. Schmutzler, Fergus J. Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F. Easton, Nadine Andrieu, Antonis C. Antoniou
Summary: Breast cancer risk for BRCA1/BRCA2 mutation carriers varies based on genetic factors. A case-only genome-wide association study identified novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Robert D. D. Morgan, George J. J. Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R. R. Clamp, Jurjees Hasan, Claire L. L. Mitchell, Zena Salih, Emma R. R. Woodward, Fiona Lalloo, Emma J. J. Crosbie, Richard J. J. Edmondson, Helene Schlecht, Gordon C. C. Jayson, D. Gareth R. Evans
Summary: Approximately 15% of patients diagnosed with high-grade non-mucinous epithelial ovarian cancer (EOC) have a germline BRCA1/2 mutation, with somatic mutations occurring more frequently in patients aged >= 80. Germline BRCA1/2 testing in this age group can be reserved for those with a detectable tumour BRCA1/2 mutation. Testing for tumour BRCA1/2 and homologous recombination deficiency is sufficient for patients aged >= 80 with non-mucinous high-grade EOC.
Article
Medicine, Research & Experimental
Dorra Ben Ayed-Guerfali, Wala Ben Kridis-Rejab, Nihel Ammous-Boukhris, Wajdi Ayadi, Slim Charfi, Afef Khanfir, Tahia Sellami-Boudawara, Mounir Frikha, Jamel Daoud, Raja Mokdad-Gargouri
Summary: The study revealed a 14.17% frequency of BRCA germline mutations in Tunisian patients with high risk of breast/ovarian cancer, with some recurrent mutations found in a significant proportion of familial cases of breast and ovarian cancer.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Oncology
Rebecca Lewinsohn, Yue Zheng, Shoshana M. Rosenberg, Kathryn J. Ruddy, Rulla M. Tamimi, Lidia Schapira, Jeffrey Peppercorn, Virginia F. Borges, Steven Come, Craig Snow, Elizabeth S. Ginsburg, Ann H. Partridge
Summary: Limited data exist comparing fertility preferences and practices between young women with breast cancer who carry germline genetic pathogenic variants and noncarriers. However, the results showed that carriers had similar concerns about future fertility and were as likely to pursue fertility preservation as noncarriers. Concerns about cancer risk heritability were more frequent among carriers and impacted decisions about future pregnancies.
CLINICAL BREAST CANCER
(2023)
Article
Oncology
Nicholas J. Boddicker, Chunling Hu, Jeffrey N. Weitzel, Peter Kraft, Katherine L. Nathanson, David E. Goldgar, Jie Na, Hongyan Huang, Rohan D. Gnanaolivu, Nicole Larson, Amal Yussuf, Song Yao, Celine M. Vachon, Amy Trentham-Dietz, Lauren Teras, Jack A. Taylor, Christopher E. Scott, Dale P. Sandler, Tina Pesaran, Alpa Patel, Julie R. Palmer, Irene M. Ong, Janet E. Olson, Katie O'Brien, Susan Neuhausen, Elena Martinez, Huiyan Ma, Sara Lindstrom, Loic Le Marchand, Charles Kooperberg, Rachid Karam, David J. Hunter, James M. Hodge, Christopher Haiman, Mia M. Gaudet, Chi Gao, Holly LaDuca, James Lacey, Jill S. Dolinsky, Elizabeth Chao, Brian D. Carter, Elizabeth S. Burnside, Kimberly A. Bertrand, Leslie Bernstein, Paul W. Auer, Christine Ambrosone, Siddhartha Yadav, Steven N. Hart, Eric C. Polley, Susan M. Domchek, Fergus J. Couch
Summary: This study identified the prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women over age 65 years. It found that women with PVs in BRCA1, BRCA2, and PALB2 have an increased risk of breast cancer. The study suggests that genetic testing should be considered for women diagnosed with triple-negative or ER-negative breast cancer, and MRI screening may be beneficial for women over age 65 with certain PVs.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Sarah Edaily, Hikmat Abdel-Razeq
Summary: Most cases of breast cancer are sporadic, but 15-20% are associated with family history, some of which are inherited. Mutations in BRCA1 and BRCA2 are the most commonly encountered pathogenic germline variants (PGVs). Testing for PGVs is commonly done using multi-gene panel sequencing. The management of BRCA-positive breast cancers has shifted towards risk-reducing interventions and special treatment regimens.
ONCOTARGETS AND THERAPY
(2022)
Review
Cell Biology
A. Sokolova, K. J. Johnstone, A. E. McCart Reed, P. T. Simpson, S. R. Lakhani
Summary: Hereditary factors, including pathogenic variants in genes such as BRCA1, BRCA2, ATM, CHEK2, etc., play a significant role in breast cancer risk. Polygenic risk, which results from carrying multiple low-penetrance breast cancer susceptibility alleles, also contributes to the risk. This review provides an overview of established breast cancer susceptibility genes, breast cancer predisposition syndromes, and discusses the implications of molecular testing and therapy in hereditary breast cancer.
Article
Oncology
Michaela A. A. Dinan, Sarah Pitafi, Rachel A. A. Greenup, Jessica B. B. Long, Cary P. P. Gross
Summary: Rates of BRCA1/BRCA2 genetic testing vary among women with breast cancer based on age, hormone receptor status, and family history. The study found that while testing rates are increasing in older women, they remain underused in younger women, with stable rates in the population under 50 and a slight decrease in women under 45.
BREAST CANCER RESEARCH AND TREATMENT
(2023)