Review
Health Care Sciences & Services
Rachele M. Hendricks-Sturrup, Lucson Joseph, Christine Y. Lu
Summary: This study systematically reviewed 24 studies involving 4279 participants, examining PROs following genetic testing for FH, breast, and ovarian cancer syndrome, as well as Lynch syndrome, identifying important gaps and themes in the literature.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Oncology
Mary B. Daly, Tuya Pal, Michael P. Berry, Saundra S. Buys, Patricia Dickson, Susan M. Domchek, Ahmed Elkhanany, Susan Friedman, Michael Goggins, Mollie L. Hutton, Beth Y. Karlan, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison W. Kurian, Christine Laronga, Jennifer K. Litton, Julie S. Mak, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Holly J. Pederson, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Rebecca Shatsky, Kala Visvanathan, Jeffrey N. Weitzel, Myra J. Wick, Kari B. Wisinski, Matthew B. Yurgelun, Susan D. Darlow, Mary A. Dwyer
Summary: The NCCN Guidelines focus on assessing genetic variants associated with increased risk of breast, ovarian, and pancreatic cancer, particularly BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Individuals with pathogenic BRCA1/2 variants have high risks of breast and ovarian cancer, as well as elevated risks of prostate cancer and pancreatic cancer. Li-Fraumeni syndrome is associated with high lifetime risks of various cancers.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2021)
Article
Biochemistry & Molecular Biology
Mar Infante, Monica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernandez, Noemi Martinez, Mercedes Duran
Summary: The probability of carrying two pathogenic variants in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon. However, four cases of patients carrying different pathogenic variants in breast, ovarian, or colorectal cancer have been identified. The ages at diagnosis and severity of disease were similar to those in single gene carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Francisca Fernanda Barbosa Oliveira, Paulo Goberlanio de Barros Silva, Rosane Oliveira de Sant'Ana, Clarissa Gondim Picanco de Albuquerque, Maria Julia Barbosa Bezerra, Deysi Viviana Tenazoa Wong, Flavio Silveira Bitencourt, Isabelle Joyce de Lima Silva-Fernandes, Marcos Venicio Alves Lima
Summary: High education level, history of psychiatric disease, and use of psychotropic drugs are directly associated with increased anxiety levels in HBOC patients. High education level also has a negative impact on quality of life. Anxiety and depression are directly correlated and both significantly reduce quality of life. Our results emphasize the importance of psychological support and screening for risk factors in HBOC patients.
SUPPORTIVE CARE IN CANCER
(2021)
Review
Biochemistry & Molecular Biology
Akiyoshi Kasuga, Takeshi Okamoto, Shohei Udagawa, Chinatsu Mori, Takafumi Mie, Takaaki Furukawa, Yuto Yamada, Tsuyoshi Takeda, Masato Matsuyama, Takashi Sasaki, Masato Ozaka, Arisa Ueki, Naoki Sasahira
Summary: Hereditary pancreatic cancers are mainly caused by inherited genes, with familial pancreatic cancer accounting for a portion of cases. Known susceptibility genes include BRCA1 and BRCA2. Targeted medications have been developed for these mutations. Additionally, certain features are associated with homologous recombination deficiency and sensitivity to targeted therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Allison W. Kurian, Kevin C. Ward, Paul Abrahamse, Irina Bondarenko, Ann S. Hamilton, Dennis Deapen, Monica Morrow, Jonathan S. Berek, Timothy P. Hofer, Steven J. Katz
Summary: Genetic testing plays a crucial role in risk reduction and treatment for breast and ovarian cancer, but there are gaps in its evolving use, particularly in the increasing rates of variants of uncertain significance (VUS) and pathogenic variants (PVs). Testing trends show a gradual increase over the years, with a widening racial or ethnic gap seen in VUS results. In conclusion, there is a need for quality improvement in genetic testing to focus on indicated patients rather than simply adding more genes to the testing panel.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Po-Han Lin, Yun-Wen Tien, Wen-Fang Cheng, Ying-Cheng Chiang, Chien-Huei Wu, Karen Yang, Chiun-Sheng Huang
Summary: Genetic high-risk assessment combines hereditary breast, ovarian, and pancreatic cancer into one syndrome, but there is a lack of data for comparing the germline mutational spectrum of the cancer predisposing genes between these three cancers. In this study, patients who met the criteria of hereditary breast, ovarian, and pancreatic cancer were enrolled and received multi-gene sequencing. The results showed that the mutation spectrum varies across the three cancer types and family histories, providing guidance for physicians, counselors, and counselees.
JOURNAL OF GYNECOLOGIC ONCOLOGY
(2023)
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: This retrospective cohort study evaluated the frequency of genetic testing in patients with breast, ovarian, pancreatic, and prostate cancers, and found an increase in testing over time. While guideline-concordant testing was high for breast cancer, there were gaps in concordance among patients with other cancers. Increasing provider and patient education, genetic counseling, and insurance coverage for testing among these patients may improve guideline adherence.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: The frequency of genetic testing for potentially hereditary breast, ovarian, pancreatic, and prostate cancers has increased over time. While guideline-concordant testing is high for breast cancer, there are inconsistencies among patients with other cancers. Improving provider and patient education, genetic counseling, and insurance coverage may improve adherence to guidelines.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Memnun Seven, Lisa L. Shah, Hulya Yazici, Sandra Daack-Hirsch
Summary: This study aimed to explore the communication of BRCA1/2 genetic risk from the proband to first-degree relatives and found a low rate of genetic testing. Counseling should consider the educational level of the proband and the age of relatives.
Article
Oncology
Mary B. Daly, Tuya Pal, Kara N. Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa Alhilli, Banu Arun, Saundra S. Buys, Heather Cheng, Susan M. Domchek, Susan Friedman, Veda Giri, Michael Goggins, Andrea Hagemann, Ashley Hendrix, Mollie L. Hutton, Beth Y. Karlan, Nawal Kassem, Seema Khan, Katia Khoury, Allison W. Kurian, Christine Laronga, Julie S. Mak, John Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Kala Visvanathan, Jeanna Welborn, Myra J. Wick, Marie Wood, Matthew B. Yurgelun, Mary A. Dwyer, Susan D. Darlow
Summary: The NCCN Guidelines focus on genetic/familial high-risk assessment for breast, ovarian, and pancreatic cancers. They provide recommendations for genetic counseling/testing and care strategies for individuals with pathogenic/likely pathogenic (P/LP) variants associated with increased risk. The updates include a new section for transgender, nonbinary, and gender diverse people, as well as testing criteria and management for TP53 P/LP variants and Li-Fraumeni syndrome.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2023)
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.
Article
Gastroenterology & Hepatology
Pooja Dharwadkar, Garrett Greenan, Elena M. Stoffel, Ezra Burstein, Sara Pirzadeh-Miller, Sayoni Lahiri, Caitlin Mauer, Amit G. Singal, Caitlin C. Murphy
Summary: Racial/ethnic differences exist in referral to and receipt of germline genetic testing among young-onset CRC patients. These findings underscore the importance of universal genetic testing to address racial/ethnic disparities in young-onset CRC.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Oncology
Yuyeon Jung, Sooyoung Hur, JingJing Liu, Sanha Lee, Byung Soo Kang, Myungshin Kim, Youn Jin Choi
Summary: The study suggests that BRCA1 methylation may predict ovarian cancer in familial cancer patients without BRCA1/2 mutations. Furthermore, individuals with a family history of cancer are more likely to have BRCA1 methylation, which has important implications for the diagnostic and predictive testing of ovarian cancer in those with BRCAwt status and a family history of cancer.
JOURNAL OF GYNECOLOGIC ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Annie Wang, Jessica N. Everett, Jennifer Chun, Cindy Cen, Diane M. Simeone, Freya Schnabel
Summary: This study found that breast cancer patients with a family history of pancreatic cancer were more likely to undergo genetic testing, but still a significant proportion did not receive testing or were incompletely tested, suggesting a potential underestimation of pancreatic cancer risk.
SCIENTIFIC REPORTS
(2021)
Review
Gastroenterology & Hepatology
Celeste A. Shelton, David C. Whitcomb
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY
(2015)
Article
Microbiology
Santosh Katiyar, Eric Shiffrin, Celeste Shelton, Kelley Healey, John-Paul Vermitsky, Tom Edlind
JOURNAL OF CLINICAL MICROBIOLOGY
(2016)
Article
Gastroenterology & Hepatology
Celeste A. Shelton, Chandraprakash Umapathy, Kimberly Stello, Dhiraj Yadav, David C. Whitcomb
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2018)
Review
Gastroenterology & Hepatology
Wei Zhan, Celeste A. Shelton, Phil J. Greer, Randall E. Brand, David C. Whitcomb
Article
Medicine, Research & Experimental
Anh-Thu N. Lam, Melis A. Aksit, Briana Vecchio-Pagan, Celeste A. Shelton, Derek L. Osorio, Arianna F. Anzmann, Loyal A. Goff, David C. Whitcomb, Scott M. Blackman, Garry R. Cutting
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Genetics & Heredity
Celeste A. Shelton, Robin E. Grubs, Chandraprakash Umapathy, Dhiraj Yadav, David C. Whitcomb
JOURNAL OF GENETIC COUNSELING
(2020)
Review
Gastroenterology & Hepatology
Celeste A. Shelton, David C. Whitcomb
CURRENT OPINION IN GASTROENTEROLOGY
(2020)
Article
Gastroenterology & Hepatology
Mitchell A. Ellison, Daniel M. Spagnolo, Celeste Shelton, Ekatarina Orlova, Jessica LaRusch, David C. Whitcomb, Mark Haupt
Article
Gastroenterology & Hepatology
Brandon M. Blobner, Melena D. Bellin, Gregory J. Beilman, Celeste A. Shelton, Hyung Jung Park, David C. Whitcomb
Article
Gastroenterology & Hepatology
Brandon M. Blobner, Jami L. Saloman, Celeste A. Shelton Ohlsen, Randall Brand, Robert Lafyatis, Rita Bottino, Martin Wijkstrom, Amer H. Zureikat, Kenneth K. Lee, Aatur D. Singhi, Mark A. Ross, Donna Stolz, David C. Whitcomb
Summary: We conducted single cell RNA sequencing on pancreas tissue from five individuals and identified eleven unique cell clusters, including a large population of dedifferentiated cells and two unique clusters of acinar cells, one of which appears to be in a transitional state. Additionally, we examined the cellular response to stimuli and found that pancreatic digestive enzymes and islet hormones were upregulated in cells treated with bethanechol, with high doses showing toxic effects consistent with hyperstimulation.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2021)