Discussing and managing hematologic germ line variants.

Abstract:

:With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease. The challenges of screening other family members and offering the most appropriate early malignancy detection is also discussed. We now have a good opportunity to better define hereditary cancer syndromes with associated hematologic malignancies and contribute to clinically effective guidelines.

journal_name

Blood

journal_title

Blood

authors

Kohlmann W,Schiffman JD

doi

10.1182/blood-2016-06-716704

subject

Has Abstract

pub_date

2016-11-24 00:00:00

pages

2497-2503

issue

21

eissn

0006-4971

issn

1528-0020

pii

blood-2016-06-716704

journal_volume

128

pub_type

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