Research Topics
Species | Zsofia K StadlerSummaryAffiliation: Memorial Sloan-Kettering Cancer Center Country: USA Publications
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Detail Information
Publications
Germline PALB2 mutation analysis in breast-pancreas cancer familiesZsofia K Stadler
Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
J Med Genet 48:523-5. 2011..Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown...
Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancerZsofia K Stadler
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Cancer 118:493-9. 2012..Breast-pancreas cancer families with BRCA1 mutations have also been observed. The influence of a family history (FH) of PC on BRCA mutation prevalence in patients with breast cancer (BC) is unknown...
Genome-wide association studies of cancerZsofia K Stadler
Clinical Genetics Service andthe Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, NY, NY 10021, USA
J Clin Oncol 28:4255-67. 2010..To date, however, the clinical utility of GWAS-derived risk markers remains limited...
An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directionsMaeve A Lowery
Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Oncologist 16:1397-402. 2011....
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levelsLiying Zhang
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, P O Box 36, New York, NY 10065, USA
Breast Cancer Res Treat 130:1051-6. 2011..Analysis of a tumor specimen indicates loss of heterozygosity. These results support the conclusion that BRCA1 331G > A (R71K) is a deleterious mutation...
The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognizedEmily Steinhagen
Department of Surgery, Colorectal Service, Memorial Sloan Kettering Cancer Center, New York, NY
Clin Colorectal Cancer 11:304-8. 2012..The purpose of this study was to report the prevalence of TC and benign thyroid disease in patients with FAP...
Genome-wide association studies of cancer: principles and potential utilityZsofia K Stadler
Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Oncology (Williston Park) 24:629-37. 2010....
Synchronous breast cancers with different morphologic and molecular phenotypes occurring in Lynch syndrome: what does the heterogeneity imply?Clare D'Arcy
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Am J Surg Pathol 35:1743-8. 2011....
Diagnosing hereditary colorectal cancerDavid J Gallagher
Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Clin Colorectal Cancer 9:205-11. 2010..While these associations have helped to identify potentially important pathways in CRC carcinogenesis, at the current time, the clinical use of such genetic risk variants in colon cancer risk stratification remains limited...
Genetic testing in gastrointestinal cancers: a case-based approachKasmintan Schrader
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Oncology (Williston Park) 26:433-6, 438, 444-6 passim. 2012..In this article, we use a case-based approach to focus on the hereditary aspects of the most common GI cancers, including pancreatic, gastric, and colon cancer...
Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literatureYevgeniy Karamurzin
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Hum Pathol 43:1677-87. 2012..As yet, however, there are no data to support the inclusion of these tumors into general screening guidelines for detecting Lynch syndrome, nor are there data to warrant surveillance for these tumors in patients with Lynch syndrome...
Rare de novo germline copy-number variation in testicular cancerZsofia K Stadler
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Am J Hum Genet 91:379-83. 2012....
Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resectionEmily Steinhagen
Department of Surgery, Colorectal Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Am Coll Surg 214:61-7. 2012..Our study describes the impact of routine immunohistochemistry (IHC) analysis of tumor tissue for loss of MMR protein expression in early age-of-onset CRC patients undergoing resection...
Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer familiesZsofia K Stadler
Department of Medicine, Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
Breast Cancer Res Treat 123:581-5. 2010..Major gene rearrangements involving the BRCA1 and BRCA2 genes appear to contribute little to the burden of inherited predisposition to breast and ovarian cancer in the Ashkenazim...
