Coexisting germline variants of and in a patient with Lynch syndrome who had uterine and ovarian cancer

Lynch HT, Snyder CL, Shaw TG et al (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 15:181–194

CAS  PubMed  Google Scholar 

Tamura K, Kaneda M, Futagawa M et al (2019) Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome. Int J Clin Oncol 24:999–1011

PubMed  Google Scholar 

Win AK, Jenkins MA, Buchanan DD et al (2011) Determining the frequency of de novo germline mutations in DNA mismatch repair genes. J Med Genet 48:530–534

CAS  PubMed  Google Scholar 

Kast K, Neuhann TM, Görgens H et al (2012) Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. BMC Cancer 12:1–5

Google Scholar 

Pinto C, Pinheiro M, Peixoto A et al (2016) Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal. J Hum Genet 61:151–156

CAS  PubMed  Google Scholar 

Ferrer-Avargues R, Castillejo MI, Dámaso E et al (2021) Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome. Cancer Commun 41:218–228

Google Scholar 

Thompson BA, Spurdle AB, Plazzer JP et al (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46:107–115

CAS  PubMed  Google Scholar 

Mueller J, Gazzoli I, Bandipalliam P et al (2009) Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res 69:7053–7061

CAS  PubMed  PubMed Central  Google Scholar 

Yuan Y, Huang YQ, Cai SR et al (2004) Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. Jpn J Clin Oncol 34:660–666

PubMed  Google Scholar 

Kosinski J, Hinrichsen I, Bujnicki JM et al (2010) Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. Hum Mutat 31:975–982

CAS  PubMed  Google Scholar 

Mohd AB, Palama B, Nelson SE et al (2006) Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. DNA Repair (Amst) 5:347–361

CAS  PubMed  Google Scholar 

Mangold E, Pagenstecher C, Friedl W et al (2005) Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol 207:385–395

CAS  PubMed  Google Scholar 

Takahashi M, Shimodaira H, Andreutti-Zaugg C et al (2007) Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res 67:4595–4604

CAS  PubMed  Google Scholar 

Baglietto L, Lindor NM, Dowty JG et al (2010) Risks of lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 102:193–201

CAS  PubMed  PubMed Central  Google Scholar 

Goodfellow PJ, Buttin BM, Herzog TJ et al (2003) Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U S A 100:5908–5913

CAS  PubMed  PubMed Central  Google Scholar 

Abildgaard AB, Nielsen SV, Bernstein I et al (2023) Lynch syndrome, molecular mechanisms and variant classification. Br J Cancer 128:726–734

CAS  PubMed  Google Scholar 

Deihimi S, Lev A, Slifker M et al (2017) BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations. Oncotarget 8:39945–39962

PubMed  PubMed Central  Google Scholar 

Le DT, Durham JN, Smith KN et al (1979) (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357:409–413

Google Scholar 

Lord CJ, Ashworth A (2017) PARP inhibitors: synthetic lethality in the clinic. Science 355:1152–1158

CAS  PubMed  PubMed Central  Google Scholar 

Sokol ES, Jin DX, Fine A et al (2022) PARP inhibitor insensitivity to BRCA1/2 monoallelic mutations in microsatellite instability-high cancers. JCO Precis Oncol 6:e2100531

PubMed  PubMed Central  Google Scholar 

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