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Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018 Lynch syndrome (LS) is an autosomal-dominant disease characterized by an increased cancer susceptibility, particularly of the colon and endometrium. LS is caused by a constitutional heterozygous loss-of-function mutation or epimutation in one of the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 or PMS2).
Elena M. Stoffel +2 more
openaire +3 more sources
Molecular subtype classification of urothelial carcinoma in Lynch syndrome
Molecular Oncology, 2018 Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome‐associated urothelial cancer. We aimed to provide a
Christina Therkildsen +6 more
doaj +1 more source
Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation [PDF]
, 2009 Background There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome. Methods A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice
Riad Akoum +13 more
core +2 more sources
Differentiating Lynch-Like From Lynch Syndrome [PDF]
Gastroenterology, 2014 Lynch syndrome is a hereditary condition found in ~3% of all colorectal cancer patients and is defined by germline inactivation in one of the DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hMSH6, hPMS2) (1,2). One allele is inactivated in every cell in a Lynch syndrome patient most commonly by pathogenic mutation or deletion of hMSH2 or hMLH1, or less ...
openaire +2 more sources
Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. [PDF]
, 2008 Individuals with Lynch syndrome are predisposed to cancer due to an inherited DNA mismatch repair gene mutation. However, there is significant variability observed in disease expression likely due to the influence of other environmental, lifestyle, or ...
Amos, Christopher I +6 more
core +1 more source
An Update on Immune Checkpoint Therapy for the Treatment of Lynch Syndrome
Clinical and Experimental Gastroenterology, 2021 Christina Therkildsen,1,2 Lars Henrik Jensen,3 Maria Rasmussen,2 Inge Bernstein4,5 1Department of Surgical Gastroenterology, Copenhagen University Hospital, Copenhagen, Denmark; 2The Danish HNPCC Register, Department of Clinical Research, Copenhagen ...
Therkildsen C +3 more
doaj
Hereditary Cancer in Clinical Practice, 2019 Background Lynch syndrome, a hereditary cancer syndrome, predisposes women to colorectal, endometrial, and ovarian cancer. Current guidelines recommend that women with Lynch syndrome undergo risk-reducing gynecological surgery to reduce their chances of ...
Kaitlin M. McGarragle +7 more
doaj +1 more source
Lynch syndrome: An unusal case of familial cancer unearthed
Indian Journal of Pathology and Microbiology, 2022 Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a type of inherited cancer syndrome with a genetic predisposition to different types of cancer.
Subhra Dhar +4 more
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BMC Health Services Research, 2022 Background Lynch syndrome is an underdiagnosed hereditary condition carrying an increased lifetime risk for colorectal and endometrial cancer and affecting nearly 1 million people in the United States.
Lauren Passero +6 more
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Endometrial Cancer Diagnosed at an Early Stage during Lynch Syndrome Surveillance: A Case Report
Case Reports in Oncology, 2023 Lynch syndrome is an autosomal dominant inherited disorder caused by a germline pathogenic variant in DNA mismatch repair genes, resulting in multi-organ cancer.
Maki Umemiya +11 more
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