Lynch syndrome–associated colorectal cancer

FA Sinicrope - New England Journal of Medicine, 2018‏ - Mass Medical Soc
Key Clinical Points Lynch Syndrome–Associated Colorectal Cancer The Lynch syndrome is
the most common inherited syndrome associated with colorectal cancer, accounting for 3 …

Hereditary breast cancer: Syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023‏ - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

A population-based study of genes previously implicated in breast cancer

C Hu, SN Hart, R Gnanaolivu, H Huang… - … England Journal of …, 2021‏ - Mass Medical Soc
Background Population-based estimates of the risk of breast cancer associated with
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …

Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer

A Latham, P Srinivasan, Y Kemel, J Shia… - Journal of clinical …, 2019‏ - ascopubs.org
PURPOSE Microsatellite instability (MSI) and/or mismatch repair deficiency (MMR-D) testing
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …

Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing

H Shimelis, H LaDuca, C Hu, SN Hart… - JNCI: Journal of the …, 2018‏ - academic.oup.com
Background Germline genetic testing with hereditary cancer gene panels can identify
women at increased risk of breast cancer. However, those at increased risk of triple-negative …

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high …

H LaDuca, EC Polley, A Yussuf, L Hoang… - Genetics in …, 2020‏ - nature.com
Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer
predisposition, there is limited guidance surrounding indications for testing and genes to …

Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers

ME Roberts, JMO Ranola, ML Marshall… - JAMA …, 2019‏ - jamanetwork.com
Importance CDH1pathogenic variants have been estimated to confer a 40% to 70% and
56% to 83% lifetime risk for gastric cancer in men and women, respectively. These are likely …

Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome

K Tamura, M Kaneda, M Futagawa, M Takeshita… - International journal of …, 2019‏ - Springer
Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant
manner, wherein colon cancer and endometrial cancer develop frequently in the family, it …

Gynecological cancers caused by deficient mismatch repair and microsatellite instability

M Deshpande, PA Romanski, Z Rosenwaks, J Gerhardt - Cancers, 2020‏ - mdpi.com
Simple Summary Microsatellite instability (MSI) has been detected in multiple types of
gynecologic cancers. MSI is linked to mutations in mismatch repair (MMR) genes that cause …