Results 51 to 60 of about 16,168 (189)

Pulmonary Artery Intimal Sarcoma in a Patient with Lynch Syndrome: Response to an Immune Checkpoint Inhibitor

Case Reports in Oncology, 2023
Intimal sarcoma is an extremely rare mesenchymal tumor arising in the great vessels. To date, intimal sarcoma has not been reported in patients with Lynch syndrome (LS), even though this syndrome lacks DNA mismatch repair ability genetically and is prone
Yue Mounai, Taichi Yoshida, Shogo Ito, Koji Fukuda, Kazuhiro Shimazu, Daiki Taguchi, Hanae Shinozaki, Daichi Takagi, Kazuhiro Imai, Hiroshi Yamamoto, Yoshihiro Minamiya, Hiroshi Nanjyo, Hiroyuki Shibata   +12 more
doaj   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort [PDF]

BMJ Open, 2016
ObjectivesImmunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation inPMS2, previous studies reportedMLH1mutation in some cases. We determined the prevalence ofMLH1germline mutations in
Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, Stephen N Thibodeau, John A Baron, Aung Ko Win, John L Hopper, Mark A Jenkins, Daniel D Buchanan   +25 more
openaire   +4 more sources

Demographic and Clinical Characteristics of Early‐Onset Colorectal Cancer in Sweden and Finland: A Multicentre Retrospective Cohort Study Over Three Decades

Journal of Surgical Oncology, EarlyView.
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi, Tanja Hukkinen, Tuomas Kaprio, Sofia Edin, Mats Hjortborg, Cecilia Williams, Jaana Hagström, Caj Haglund, Richard Palmqvist, Karin Strigård, Camilla Böckelman, Ioannis Gkekas   +11 more
wiley   +1 more source

Improved multiplex ligation‐dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL [PDF]

Genes, Chromosomes and Cancer, 2012
AbstractHeterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which – owing to extensive interparalog sequence exchange – closely resembles PMS2 downstream of exon 12.
Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina   +11 more
openaire   +4 more sources

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

PMS2-associated Lynch syndrome

Frontiers in Oncology, 2023
Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were traditionally thought to be at comparable risk of developing a range of different malignancies, foremost colorectal cancer (CRC) and endometrial cancer. However, it is now widely accepted that their cancer risk and cancer spectrum range notably depending on which MMR ...
Andini, Katarina D., Nielsen, Maartje, Suerink, Manon, Helderman, Noah C., Koornstra, Jan Jacob, Ahadova, Aysel, Kloor, Matthias, Mourits, Marian J.E., Kok, Klaas, Sijmons, Rolf H., Bajwa–ten Broeke, Sanne W.   +10 more
openaire   +1 more source

PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer

Molecular Genetics & Genomic Medicine, 2019
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. However, as one of the MMR genes, PMS2 mutation‐induced LS‐associated ovarian cancer (LSAOC)
Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu   +6 more
doaj   +1 more source

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

Cancer Management and Research, 2019
Raffaella Liccardo,1 Carlo Della Ragione,2 Nunzio Mitilini,2 Marina De Rosa,1 Paola Izzo,1 Francesca Duraturo11Department of Molecular Medicine and Medical Biotechnologies, School of Medicine, University of Naples “Federico II”, Naples, Italy;
Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F   +5 more
doaj  

What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre‐Menopausal Risk‐Reducing Bilateral Salpingo‐Oophorectomy

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Surgical menopause, the removal of both ovaries prior to natural menopause, may impact short‐and long‐term physical and emotional health. An increasingly common cause of surgical menopause is risk‐reducing salpingo‐oophorectomy (RRSO) in those at high inherited risk of ovarian cancer.
Sarah A. L. Price, Pauline M. Maki, Samar R. El Khoudary, Alison Brand, Rakibul M. Islam, Susan M. Domchek, Hadine Joffe, Gita D. Mishra, Katrina M. Moss, Fiona C. Baker, Sabine Braat, John D. Wark, Martha Hickey   +12 more
wiley   +1 more source