Results 71 to 80 of about 19,899 (215)

Defect in the apoptotic response to cisplatin caused by the R20Q variant of the PMS2 protein

, 2008
Popravljači pogrešno sparenih baza (MMR) obavljaju popravak replikacijskih pogrešaka nastalih tijekom DNA sinteze. Isto tako, MMR proteini kod sisavaca imaju sposobnost aktivacije kontrolne točke staničnog ciklusa, te pokretanja apoptoze kao odgovora na ...
Marinović Terzić, Ivana
core   +3 more sources

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

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome [PDF]

, 2004
We investigated a family with an autosomal recessive syndrome of café-au-lait patches and childhood malignancy, notably supratentorial primitive neuroectodermal tumor. There was no cancer predisposition in heterozygotes; nor was there bowel cancer in any
Bonthron, David T., David T. Bonthron, Bruce E. Hayward, Sheridan, Eamonn, Eamonn Sheridan, De Vos, Michel, Susan Picton, Hayward, Bruce E., Michel De Vos, Picton, Susan   +9 more
core   +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

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

A comparative analysis of MMR immunohistochemistry panels: Evaluating the utility of four-protein versus two-protein panels in endometrial cancer patients

Journal of the Formosan Medical Association
Aims: This study aimed to assess the accuracy of a two-protein panel for mismatch repair (MMR) immunohistochemistry (IHC) compared to a four-protein panel in a cohort of endometrial cancer patients.
Yu-Sheng Huang, Yu-Che Ou, Chen-Hsuan Wu, Jui Lan, Chao-Cheng Huang, Hung-Chun Fu, Szu-Wei Huang, Szu-Yu Huang, Shao-Chi Wang, Hao Lin   +9 more
doaj   +1 more source

GenProb‐PCSM: A Simplified Weighted Germline Score for Prostate Cancer‐Specific Mortality

The Prostate, EarlyView.
ABSTRACT Background We previously developed a tier‐based germline classification using the National Comprehensive Cancer Network (NCCN)‐recommended DNA damage repair (DDR) genes and KLK3 I179T to predict prostate cancer (PCa)‐specific mortality (PCSM).
Jun Wei, Zhuqing Shi, Lucy Lu, John Wang, Julian Xu, Ashley J. Mulford, Huy Tran, Annabelle Ashworth, S. Lilly Zheng, Alan R. Sanders, William B. Issacs, Jun Luo, Brian Helfand, Jim Lu, Jianfeng Xu   +14 more
wiley   +1 more source

Expression of PMS2 and p53 proteins in retinal tissues in experimental diabetic retinopathy and the effects of insulin and cellular protein kinase inhibition

Медична наука України
Relevance. The relevance of the study lies in the need to clarify the role of DNA repair mechanisms and genomic stress in the pathogenesis of diabetic retinopathy for the search for new therapeutic targets. Aim. To determine the expression of PMS2 and
Kateryna Usenko, Serhiy Ziablitsev, Olena Diadyk   +2 more
doaj   +1 more source

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

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