Research Highlights

IBMFS In General

Alter BP et al, 2018. "Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up" View in Pubmed | Read the Article

2018

This study updated estimates of the types and risks of cancer associated with IBMFS. Continued follow-up will help identify effective methods for cancer prevention and surveillance in individuals with IBMFS.

Giri et al, 2017. "Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort" View in Pubmed | Read the Article

2017

Women with any IBMFS experience higher rates of complications during pregnancy, including increased premature births and C-sections. Their pregnancies should be considered high-risk and would benefit from the care of a multidisciplinary team of maternal-fetal specialists with experience in bone marrow failure disorders.

Shankar et al, 2017. "Bone mineral density in individuals with inherited bone marrow failure syndromes" View in Pubmed | Read the Article

2017

Adults and children with IBMFS often have low bone mineral density. Prompt recognition of risk factors (including hypogonadism, iron overload, and glucocorticoid use) and management are essential to optimize bone health.

Fanconi Anemia

McReynolds et al, 2022. "Risk of cancer in heterozygous relatives of patients with Fanconi anemia" View in Pubmed | Read the ArticleExternal Web Site Policy

2022

This study of parents, grandparents, and siblings of patients with Fanconi anemia enrolled in our cohort shows that the risk of cancer is not increased in people who carry a single copy of pathogenic variant in FA gene. This does not apply to carriers of gene variants in BRCA1, BRCA2, PALB2, BRIP1, and RAD51C.

McReynolds et al, 2021. "Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)" View in Pubmed

2021

This review of world literature of FA describes the types of early childhood embryonic cancers that are seen only in patients with FA due to pathogenic variants in FANCD1 and FANCN and not in FA caused by pathogenic variants in other FA genes. Surveillance for these specific cancers is recommended for patients with FANCD1 and FANCN genotypes.

Fiesco-Roa et al, 2019. "Genotype-phenotype associations in Fanconi anemia: A literature review" View in Pubmed | Read the Article

2019

The paper describes various physical findings that have been identified in patients with Fanconi anemia and the findings that are more common. Knowledge of the presence of these findings can facilitate early diagnosis of Fanconi anemia.

Alter et al, 2018. "Serum alpha fetoprotein levels in Fanconi anaemia" View in Pubmed | Read the Article

2018

This study discovered novel pathogenic genetic variants in people with DBA and provided additional information about known genetic causes of DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.

DC

Thompson et al, 2022. "Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita" View in Pubmed | Read the Article

2022

This work describes how androgen treatment for telomere biology disorders can alter a patient’s blood lipids. Individuals receiving androgen therapy should have cardiovascular disease monitoring.

Giri et al, 2021. "Gynaecological and reproductive health of women with telomere biology disorders" View in Pubmed

2021

This work describes the gynecological and reproductive health complications of telomere biology disorders (TBD). Women with TBDs benefit from multidisciplinary, coordinated care by hematology, gynecology and maternal-fetal medicine consultation.

Niewisch et al, 2021. "Disease Progression and Clinical Outcomes in Telomere Biology Disorders" View in Pubmed

2021

This long-term study of the clinical manifestations of telomere biology disorders (TBD) created a foundation for incorporating the mode of inheritance into evidence-based clinical care guidelines, and risk stratification in patients with TBDs.

Toufektchan et al, 2020. "Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance" View in Pubmed | Read the Article

2020

This work identified that pathogenic variants in MDM4 causes a dyskeratosis congenita-like syndrome.

Bhala et al, 2019. "CNS manifestations in patients with telomere biology disorders" View in Pubmed | Read the Article

2019

This work described the structural brain abnormalities, and the neurological and psychiatric complications seen in patients with telomere biology disorders.

Giri et al, 2019. "Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder" View in Pubmed | Read the Article

2019

This work showed that pulmonary function abnormalities are common in patients with telomere biology disorders and are associated with progression to significant pulmonary disease.

Higgs et al, 2019. "Understanding the evolving phenotype of vascular complications in telomere biology disorders" View in Pubmed

2019

This article summarized the findings of the 2017 workshop on vascular abnormalities in patients with telomere biology disorders held at the NCI in conjunction with Team Telomere.

Khincha et al, 2018. "Similar telomere attrition rates in androgen treated and untreated individuals with dyskeratosis congenita" View in Pubmed | Read the Article

2018

This work showed the rate of telomere attrition is similar in patients telomere biology disorders comparing those patients on and off androgen treatment.

Ward et al, 2018. "Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of individuals with dyskeratosis congenita" View in Pubmed | Read the Article

2018

Individuals with more skin, nail and mouth complications of DC were more likely to have certain genes affected and more medical complications. Careful detection of all mucocutaneous features of DC is important for early referral, confirmatory testing, and appropriate clinical management.

DBA

Gianferante et al, 2021. "Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A" View in Pubmed | Read the Article

2021

This paper shows that patients with DBA caused by large deletions involving RPL35A can have complex problems involving multiple systems and require comprehensive care by multiple specialists.

Mirabello et al, 2017. "Novel and known ribosomal causes of Diamond Blackfan anaemia identified through comprehensive genomic characterization." View in Pubmed

2017

This study discovered novel pathogenic genetic variants in people with DBA and provided additional information about known genetic causes of DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.

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How can I join?

Individuals with one of the inherited bone marrow failure syndromes and their family members are encouraged to participate.

Phone: 1-800-518-8474 to speak with the referral nurse
Email: NCI.IBMFS@westat.com