scholarly journals Does breast carcinoma belong to the Lynch syndrome tumor spectrum? – Somatic mutational profiles vs. ovarian and colorectal carcinomas

Oncotarget ◽  
2020 ◽  
Vol 11 (14) ◽  
pp. 1244-1256 ◽  
Author(s):  
Noora K. Porkka ◽  
Alisa Olkinuora ◽  
Teijo Kuopio ◽  
Maarit Ahtiainen ◽  
Samuli Eldfors ◽  
...  
Keyword(s):  
Breast Carcinoma ◽  
Lynch Syndrome ◽  
Colorectal Carcinomas ◽  
Tumor Spectrum

scholarly journals An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

2010 ◽  
Vol 8 (Suppl 1) ◽  
pp. P17
Author(s):  
Renee L Perrier ◽  
Paulein Van Galen ◽  
Janice L Pasieka ◽  
Tony Magliocco ◽  
A Innes
Keyword(s):  
Lynch Syndrome ◽  
Msh6 Mutation ◽  
Tumor Spectrum

Abstract 5018: Genetic and epigenetic investigation of breast carcinoma arising in Lynch syndrome families

2012 ◽  
Author(s):  
Johanna E. Lotsari ◽  
Annette Gylling ◽  
Wael M. Abdel-Rahman ◽  
Marjukka Friman ◽  
Markku Aarnio ◽  
...  
Keyword(s):  
Breast Carcinoma ◽  
Lynch Syndrome

The Tumor Spectrum in the Lynch Syndrome

2005 ◽  
Vol 4 (3) ◽  
pp. 245-248 ◽  
Author(s):  
Patrice Watson ◽  
Bronson Riley
Keyword(s):  
Lynch Syndrome ◽  
Tumor Spectrum

Immunohistochemical staining for p16 and BRAFV600E is useful to distinguish between sporadic and hereditary (Lynch syndrome-related) microsatellite instable colorectal carcinomas

2016 ◽  
Vol 469 (2) ◽  
pp. 135-144 ◽  
Author(s):  
Florence Boissière-Michot ◽  
Hélène Frugier ◽  
Alexandre Ho-Pun-Cheung ◽  
Evelyne Lopez-Crapez ◽  
Jacqueline Duffour ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Immunohistochemical Staining ◽  
Colorectal Carcinomas

scholarly journals Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry

2018 ◽  
Vol 142 (4) ◽  
pp. 523-528 ◽  
Author(s):  
Lindsay Alpert ◽  
Reetesh K. Pai ◽  
Amitabh Srivastava ◽  
Wendy McKinnon ◽  
Rebecca Wilcox ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Germline Mutation ◽  
Clinicopathologic Features ◽  
Colorectal Carcinomas ◽  
Limited Information ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Disease Specific

Context.— Isolated loss of PMS2 staining is an uncommon immunophenotype in colorectal carcinomas, accounting for approximately 4% of tumors with microsatellite instability. Limited information regarding these tumors is available in the literature. Objective.— To compare the clinicopathologic features of colorectal carcinomas with isolated PMS2 loss by immunohistochemistry to those with other forms of mismatch repair deficiency. Design.— Ninety-three colorectal carcinomas with isolated PMS2 loss by immunohistochemistry and 193 with other forms of mismatch repair deficiency were identified. Forty (43%) of the isolated PMS2 loss cases and 35 control cases (18%) had a known germline mutation or a clinical diagnosis of Lynch syndrome. Results.— Overall, isolated PMS2-loss tumors occurred in significantly younger patients (P < .001) and in fewer female patients (P = .006). These tumors were significantly less likely to be right-sided (P = .001), high-grade (P = .01), or display histologic features of microsatellite instability (P < .001). The isolated PMS2-loss group also exhibited increased odds of disease-specific death (odds ratio [OR], 3.09; 95% CI, 1.41–6.85; P = .007). When the analysis was restricted to germline mutation/Lynch syndrome cases and controls, no significant differences were detected for age, sex, tumor location, tumor grade, histologic features, or distant metastases, although a trend toward increased odds of disease-specific death in the isolated PMS2-loss group was evident (OR, 3.87; 95% CI, 0.89–27.04; P = .10). Conclusions.— Unusual clinicopathologic features observed in colorectal carcinomas with isolated PMS2 loss are likely related to the high proportion of cases caused by germline mutations. Isolated PMS2-loss tumors may demonstrate more aggressive behavior than other tumors with microsatellite instability, but larger studies are needed to investigate that possibility further.

Abstract 5216: Broadening tumor spectrum in Lynch syndrome: increased incidence for 15 distinct cancer types

2016 ◽  
Author(s):  
Christina Therkildsen ◽  
Steen Ladelund ◽  
Lars Joachim Lindberg ◽  
Lars Smith-Hansen ◽  
Mef Nilbert
Keyword(s):  
Lynch Syndrome ◽  
Cancer Types ◽  
Tumor Spectrum

scholarly journals Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

2012 ◽  
Vol 14 (3) ◽  
Author(s):  
Johanna E Lotsari ◽  
Annette Gylling ◽  
Wael M Abdel-Rahman ◽  
Taina T Nieminen ◽  
Kristiina Aittomäki ◽  
...  
Keyword(s):  
Breast Carcinoma ◽  
Lynch Syndrome ◽  
Molecular Analysis ◽  
Mutation Carriers ◽  
Sporadic Cases
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