Journal ArticleDOI
Anticipation in familial hematologic malignancies
E Tegg,E Tegg,Russell Thomson,Jim Stankovich,Annette Banks,Katherine Marsden,Katherine Marsden,Ray M. Lowenthal,Ray M. Lowenthal,Simon J. Foote,Joanne L. Dickinson +10 more
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TLDR
11 families with ≥ 2 generations of family members whose condition has been diagnosed as a hematologic malignancy are described to provide further insight into the nature of the underlying genetic mechanism of predisposition in these families.About:
This article is published in Blood.The article was published on 2011-01-27. It has received 15 citations till now. The article focuses on the topics: Anticipation (genetics).read more
Citations
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Journal ArticleDOI
Genetic predisposition to hematologic malignancies: management and surveillance
Lucy A. Godley,Akiko Shimamura +1 more
TL;DR: Indications to consider additional studies and referral for allogeneic stem cell transplantation are also discussed and expert consensus recommendations and medical management considerations are integrated.
Journal ArticleDOI
Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes
Jane E. Churpek,Rachelle Lorenz,Siya Nedumgottil,Kenan Onel,Olufunmilayo I. Olopade,April D. Sorrell,Carolyn Owen,Alison A. Bertuch,Lucy A. Godley +8 more
TL;DR: Recommendations for genetic counseling, testing, and clinical management for families with inherited susceptibility to myelodysplastic syndrome and acute leukemia are proposed.
Journal ArticleDOI
Recognition of familial myeloid neoplasia in adults.
TL;DR: Clinicians and pathologists will need to have a high index of suspicion and be familiar with the aspects of a patient's personal or family history that should raise suspicion regarding these syndromes as well as the options for clinical testing.
Journal ArticleDOI
Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience.
TL;DR: Using a collaborative approach between the pediatric and adult oncology programs facilitates care within families and optimizes the diagnosis and care of individuals with cancer predisposition syndromes.
Journal ArticleDOI
A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study.
Nicholas B. Blackburn,Jac Charlesworth,James R. Marthick,E Tegg,Katherine Marsden,Velandai Srikanth,John Blangero,Ray M. Lowenthal,Simon J. Foote,Joanne L. Dickinson +9 more
TL;DR: New evidence is presented of significantly shorter mean relative telomere length in both familial and non-familial HM cases from the same population adding further support to the potential use of telomeres length as a prognostic factor in HMs.
References
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Book
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
TL;DR: Thank you very much for reading who classification of tumours of haematopoietic and lymphoid tissues, and maybe you have knowledge that, people have look hundreds of times for their chosen readings like this, but end up in malicious downloads.
Journal ArticleDOI
Repeat instability: mechanisms of dynamic mutations
TL;DR: Experimental advances towards explaining the mechanisms of repeat instability have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability.
Journal ArticleDOI
Consanguinity and its relevance to clinical genetics
TL;DR: This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective.
Journal ArticleDOI
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
Lisa R. Treviño,Wenjian Yang,Deborah L. French,Stephen P. Hunger,William L. Carroll,Meenakshi Devidas,Cheryl L. Willman,Geoffrey Neale,James R. Downing,Susana C. Raimondi,Ching-Hon Pui,William E. Evans,Mary V. Relling +12 more
TL;DR: It is concluded that germline variants affect susceptibility to, and characteristics of, specific ALL subtypes, and with methotrexate accumulation and gene expression pattern in leukemic lymphoblasts.
Journal ArticleDOI
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.
Elli Papaemmanuil,Fay J. Hosking,Jayaram Vijayakrishnan,Amy Price,Bianca Olver,Eammon Sheridan,Sally E. Kinsey,Tracy Lightfoot,Eve Roman,Julie Irving,James M. Allan,Ian Tomlinson,Malcolm Taylor,Mel Greaves,Richard S. Houlston +14 more
TL;DR: Data show that common low-penetrance susceptibility alleles contribute to the risk of developing childhood ALL and provide new insight into disease causation of this specific hematological cancer.
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