Molecular pathology of Lynch syndrome

G Cerretelli, A Ager, MJ Arends… - The Journal of …, 2020 - Wiley Online Library
Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other
cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair …

Early-onset ovarian cancer< 30 years: what do we know about its genetic predisposition?

K Horackova, M Janatova, P Kleiblova, Z Kleibl… - International Journal of …, 2023 - mdpi.com
Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most
patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult …

[HTML][HTML] The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome

EJ Crosbie, NAJ Ryan, MJ Arends, T Bosse, J Burn… - Genetics in …, 2019 - Elsevier
Purpose There are no internationally agreed upon clinical guidelines as to which women
with gynecological cancer would benefit from Lynch syndrome screening or how best to …

Association of mismatch repair mutation with age at cancer onset in Lynch syndrome: implications for stratified surveillance strategies

NAJ Ryan, J Morris, K Green, F Lalloo… - JAMA …, 2017 - jamanetwork.com
Importance Lynch syndrome is caused by dominantly inherited germline mutations that
predispose individuals to colorectal, endometrial, ovarian, and other cancers through …

Prevention strategies in endometrial carcinoma

ML MacKintosh, EJ Crosbie - Current oncology reports, 2018 - Springer
Abstract Purpose of the Review To assess the most recent high-quality evidence for
endometrial cancer prevention strategies. Recent Findings Obesity is an established risk …

How should we test for Lynch syndrome? A review of current guidelines and future strategies

R Gallon, P Gawthorpe, RL Phelps, C Hayes… - Cancers, 2021 - mdpi.com
Simple Summary Carriers of Lynch syndrome (LS) have an increased risk for several types
of tumour, in particular bowel and uterine cancers. LS is caused by inheritance of a faulty …

Mismatch repair deficiency is associated with MSI phenotype, increased tumor-infiltrating lymphocytes and PD-L1 expression in immune cells in ovarian cancer

X Xiao, D Dong, W He, L Song, Q Wang, J Yue… - Gynecologic …, 2018 - Elsevier
Objective The role of mismatch repair (MMR) deficiency in ovarian cancer (OC)
pathogenesis and its association with other clinicopathologic features, such as microsatellite …

Epithelial ovarian cancer risk: A review of the current genetic landscape

N Flaum, EJ Crosbie, RJ Edmondson… - Clinical …, 2020 - Wiley Online Library
Ovarian cancer is the fourth most common cause of cancer‐related death in women in the
developed world, and one of the most heritable cancers. One of the most significant risk …

A review of the clinical characteristics and novel molecular subtypes of endometrioid ovarian cancer

S Chen, Y Li, L Qian, S Deng, L Liu, W Xiao… - Frontiers in …, 2021 - frontiersin.org
Ovarian cancer is one of the most common gynecologic cancers that has the highest
mortality rate. Endometrioid ovarian cancer, a distinct subtype of epithelial ovarian cancer, is …

[HTML][HTML] Lynch syndrome for the gynaecologist

NAJ Ryan, RFT McMahon… - The Obstetrician & …, 2021 - ncbi.nlm.nih.gov
Genetics has become an integral part of our specialty, informing prenatal diagnosis, fertility
investigations, the management of gynaecological cancers and many other aspects of …