Victoria M Raymond
Affiliation: University of Michigan
- MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case reportVictoria M Raymond
Department of Internal Medicine, University of Michigan, 300 North Ingalls NI3 A08, Ann Arbor, MI, 48109 5419, USA
Fam Cancer 14:77-80. 2015..We describe a patient with multiple primary cancers, a deleterious germline MSH6 mutation and somatic MLH1 promotor hypermethylation highlighting the importance of incorporating the clinical history with the genetic evaluation. ..
- Adrenocortical carcinoma is a lynch syndrome-associated cancerVictoria M Raymond
University of Michigan, Ann Arbor, MI, USA
J Clin Oncol 31:3012-8. 2013..The association of adult-onset ACC with inherited cancer predisposition syndromes is poorly understood. Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC...
- Elevated risk of prostate cancer among men with Lynch syndromeVictoria M Raymond
University of Michigan, 300 North Ingalls, Ann Arbor, MI 48109 5419, USA
J Clin Oncol 31:1713-8. 2013..Previous studies quantifying prostate cancer risk in LS have provided conflicting results...
- Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinomaVictoria M Raymond
Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109 5419, USA
J Clin Endocrinol Metab 98:E119-25. 2013..Although existing criteria advocate for TP53 testing in all patients with ACC regardless of age at diagnosis, the overall prevalence of germline mutations in patients diagnosed with ACC has not been well studied...
- Genetic counselling and genetic testing in hereditary gastrointestinal cancer syndromesVictoria M Raymond
Department of Internal Medicine, University of Michigan, 300 North Ingalls, Ann Arbor, MI 48109 0419, USA
Best Pract Res Clin Gastroenterol 23:275-83. 2009..We also provide guidelines for referral to cancer genetics clinics and for promoting discussions about genetic counselling and genetic testing...
- Risk of pancreatic cancer in families with Lynch syndromeFay Kastrinos
Department of Internal Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
JAMA 302:1790-5. 2009..A number of extracolonic tumors have been associated with the disorder, including pancreatic cancer; however, the risk of pancreatic cancer in Lynch syndrome is uncertain and not quantified...
- Hereditary prostate cancer as a feature of Lynch syndromeChristina M Bauer
Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA
Fam Cancer 10:37-42. 2011..However prostate tumors in known MMR mutation carriers did display MSI and loss of gene expression suggesting that PCa may arise in Lynch Syndrome due to defective DNA mismatch repair...
- Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individualsShanna L Gustafson
Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, 300 North Ingalls SPC 5419, NI3 A08, Ann Arbor, MI, 48109, USA
Fam Cancer 14:167-74. 2015....
- A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndromePhilip S Boonstra
Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA
Genet Epidemiol 34:756-68. 2010..An expanded dataset from the Danish HNPCC-register is analyzed by this alternative set of methods...
- The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3)Tobias Else
Department of Internal Medicine, Divisions of Metabolism Endocrinology and Diabetes T E, R J A, Molecular Medicine and Genetics J N E, V M R, and Gastroenterology E M S, Department of Human Genetics M L M, and Department of Otolaryngology Head and Neck Surgery H A A at the University of Michigan Hospital and Health Systems, Ann Arbor, Michigan 48109 and Norris Cancer Center S B G, University of Southern California, Los Angeles, California 90033
J Clin Endocrinol Metab 99:E1482-6. 2014..Although the phenotypes associated with the more commonly mutated genes, SDHB and SDHD, are well described, less is known about SDHC-associated paragangliomas...
- First description of parathyroid disease in multiple endocrine neoplasia 2A syndromeJames C Sisson
Department of Radiology, Division of Nuclear Medicine, University of Michigan Health System, UH B1 G505D, Ann Arbor, MI 48109 0028, USA
Endocr Pathol 19:289-93. 2008..The initial report of the proband preceded the publications defining both MTC and MEN 2A. The values of in-depth family histories and genetic analyses are exemplified...
- Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndromeVictoria M Raymond
Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 2200, USA
Fam Cancer 11:115-21. 2012..Pathology review is essential for accurate diagnosis of a hereditary cancer syndrome in the setting of familial renal cancer...
- Traditional roles in a non-traditional setting: genetic counseling in precision oncologyJessica N Everett
Department of Internal Medicine, University of Michigan, 300 North Ingalls, NI3A16, Ann Arbor, MI, 48109, USA
J Genet Couns 23:655-60. 2014....
- Pediatric duodenal cancer and biallelic mismatch repair gene mutationsSumita Roy
Division of Pediatric Hematology Oncology, Dept of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan 48109 0238, USA
Pediatr Blood Cancer 53:116-20. 2009..We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene...
- Familial gastric and pancreatic cancersVictoria M Raymond
From the Divisions of Gastroenterology and Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan, Ann Arbor, MI
Am Soc Clin Oncol Educ Book 2013:44-8. 2013..Clinical challenges include identifying high risk individuals who would be most likely to benefit from screening and determining which screening modalities and intervals would be most effective...
- Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosisAmy E Rothberg
Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109 5354, USA
Thyroid 19:651-5. 2009..This is a report of a patient with a novel genotype-phenotype relationship of a c804 mutation of the RET proto-oncogene manifesting as medullary thyroid carcinoma (MTC) and cutaneous lichen amyloidosis (CLA)...