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Review
. 2021 Aug;194(4):663-676.
doi: 10.1111/bjh.17247. Epub 2020 Dec 5.

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities

Amy M Trottier  1 , Lucy A Godley  2
Affiliations
Review

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities

Amy M Trottier et al. Br J Haematol. 2021 Aug.

Abstract

Inherited predisposition to haematopoietic malignancies, due to deleterious germline variants in a variety of genes, is an important clinical entity with implications for the health and management of patients and their family members. Unfortunately, there remain several common misconceptions in this field that can result in patients going unrecognised and/or having incomplete or improper testing including: the impression that inherited haematological malignancy syndromes are rare, that myeloid and lymphoid malignancy predisposition syndromes are mutually exclusive, and that solid tumour predisposition syndromes are unique and distinct from haematopoietic malignancy predisposition syndromes. In the present review, we challenge these ideas with our insights into germline genetic testing for these conditions with the hope that increased awareness and knowledge will overcome barriers and lead to improved diagnosis and management.

Keywords: barriers; germline; haematopoietic malignancy.

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