Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious <scp><i>FANCM</i></scp> variants: A case report and review of the literature-Reference-Cited by-同舟云学术

Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature

Published:2023-08-22 Issue:3 Volume:203 Page:481-484
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Ng Jun Yen¹^ORCID,Warwick Linda²,Craft Paul³,Austen Lynette⁴,Ashford Bruce⁵,Gorddard Nicole³,Ballinger Mandy L.⁶,Thomas David M.⁶,Blombery Piers⁷^ORCID,Tucker Kathy⁸,Polizzotto Mark N.¹

Affiliation:

1. Department of Haematology The Canberra Hospital Canberra Australian Capital Territory Australia

2. ACT Genetic Service, The Canberra Hospital Canberra Australian Capital Territory Australia

3. Department of Oncology The Canberra Hospital Canberra Australian Capital Territory Australia

4. Department of Radiation Oncology The Canberra Hospital Canberra Australian Capital Territory Australia

5. Department of Surgery Wollongong Hospital Wollongong New South Wales Australia

6. Cancer Theme, Garvan Institute of Medical Research Darlinghurst New South Wales Australia

7. Department of Haematology Peter MacCallum Cancer Centre Melbourne Australia

8. Hereditary Cancer Clinic, Prince of Wales Hospital Randwick New South Wales Australia

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.19059

Reference11 articles.

1. Identification of FAAP24, a Fanconi Anemia Core Complex Protein that Interacts with FANCM

2. FANCM Connects the Genome Instability Disorders Bloom's Syndrome and Fanconi Anemia

3. The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

4. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

5. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility