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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 …
the most common inherited syndrome associated with colorectal cancer, accounting for 3 …
Hereditary breast cancer: Syndromes, tumour pathology and molecular testing
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 …
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …
A population-based study of genes previously implicated in breast cancer
Background Population-based estimates of the risk of breast cancer associated with
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …
germline pathogenic variants in cancer-predisposition genes are critically needed for risk …
Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer
PURPOSE Microsatellite instability (MSI) and/or mismatch repair deficiency (MMR-D) testing
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing
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 …
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 …
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 …
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 …
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 …
manner, wherein colon cancer and endometrial cancer develop frequently in the family, it …
Gynecological cancers caused by deficient mismatch repair and microsatellite instability
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 …
gynecologic cancers. MSI is linked to mutations in mismatch repair (MMR) genes that cause …