Deficient mismatch repair: read all about it
S Richman - International journal of oncology, 2015 - spandidos-publications.com
Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called
microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers …
microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers …
The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
SA Cohen, A Leininger - The application of clinical genetics, 2014 - Taylor & Francis
Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as
much as 3% of all colon and endometrial cancers. The identification and management of …
much as 3% of all colon and endometrial cancers. The identification and management of …
Mismatch repair deficiency testing in clinical practice
Lynch syndrome, an autosomal dominant inherited disorder, is caused by inactivating
mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic …
mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic …
Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome
BAL Batte, AS Bruegl, MS Daniels, KL Ring… - Gynecologic …, 2014 - Elsevier
Objective Determine factors impacting the uptake of genetic counseling and results of
genetic testing following universal tumor testing for Lynch syndrome in patients with …
genetic testing following universal tumor testing for Lynch syndrome in patients with …
Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review
Evidence suggests that a significant proportion of individuals referred to cancer genetic
counselling (GC) do not attend, and thus may not be engaged in adequate cancer risk …
counselling (GC) do not attend, and thus may not be engaged in adequate cancer risk …
Fertility-sparing treatment for endometrial cancer and atypical endometrial hyperplasia in patients with Lynch Syndrome: Molecular diagnosis after …
U Catena, L Della Corte, A Raffone, A Travaglino… - Frontiers in …, 2022 - frontiersin.org
Introduction Lynch Syndrome (LS) represents the hereditary condition that is most frequently
associated with endometrial cancer (EC). The aim of this study is to assess the presence of …
associated with endometrial cancer (EC). The aim of this study is to assess the presence of …
Patient perspectives to inform a health literacy educational program: a systematic review and thematic synthesis of qualitative studies
M Jager, J de Zeeuw, J Tullius, R Papa… - International journal of …, 2019 - mdpi.com
Patient-centred care is tailored to the needs of patients and is necessary for better health
outcomes, especially for individuals with limited health literacy (LHL). However, its …
outcomes, especially for individuals with limited health literacy (LHL). However, its …
Uncertainty in the process of communicating cancer-related genetic risk information with patients: a scoping review
SJ Hong - Journal of Health Communication, 2020 - Taylor & Francis
In the era of precision medicine, patients must manage the uncertainty caused by
ambiguous genetic information. To aid health practitioners in effectively communicating …
ambiguous genetic information. To aid health practitioners in effectively communicating …
Universal screening of colorectal cancers for Lynch syndrome: challenges and opportunities
SM Vindigni, AM Kaz - Digestive diseases and sciences, 2016 - Springer
Lynch syndrome (LS) is the most common heritable colorectal cancer (CRC) syndrome,
accounting for approximately 3% of CRC cases in the USA each year. LS results from a …
accounting for approximately 3% of CRC cases in the USA each year. LS results from a …
Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives
JE Hunter, KA Arnold, JE Cook, J Zepp, MJ Gilmore… - Familial cancer, 2017 - Springer
Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC)
could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated …
could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated …