Annual Meeting of the NCI Cohort Consortium (Abstract Submission): Submission #8

Submission information
Submission Number: 8
Submission ID: 127394
Submission UUID: 62c8c04e-d728-40fa-8f23-1e417a27702c

Created: Thu, 09/12/2024 - 03:17
Completed: Thu, 09/12/2024 - 03:42
Changed: Mon, 09/16/2024 - 16:43

Remote IP address: 10.208.24.118
Submitted by: Anonymous
Language: English

Is draft: No
Lightning Talks Abstract
Erman
Akkus
MD
MD, Internal Medicine Specialisst, Medical Oncology Fellow
Ankara University Faculty of Medicine, Department of Medical Oncology, Ankara, Türkiye
A Germline Variant of BNIP1 Gene (rs28199) is Associated with Familial Multiple Myeloma
  1. First Name: Timur
    Last Name: Tuncalı
    Degree(s): MD
    Organization: Department of Medical Genetics, Ankara University Faculty of Medicine, Ankara, Turkey
  2. First Name: Hasan Yalım
    Last Name: Akın
    Degree(s): PhD
    Organization: Department of Hematology, Ankara University, Faculty of Medicine, Ankara, Türkiye
  3. First Name: Ayşe
    Last Name: Salihoğlu
    Degree(s): MD
    Organization: Department of Hematology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Türkiye
  4. First Name: Ömür Gökmen
    Last Name: Sevindik
    Degree(s): MD
    Organization: Department of Hematology, Medipol University, Faculty of Medicine, Istanbul, Türkiye
  5. First Name: Hakkı Onur
    Last Name: Kırkızlar
    Degree(s): MD
    Organization: Department of Hematology, Trakya University Faculty of Medicine, Edirne, Türkiye
  6. First Name: Siret
    Last Name: Ratip
    Degree(s): MD
    Organization: Department of Hematology, Acibadem Healthcare Group, Istanbul, Türkiye
  7. First Name: Sevgi
    Last Name: Kalayoğlu Beşışık
    Degree(s): MD
    Organization: Department of Internal Medicine, Division of Hematology, Istanbul University Medical Faculty, Istanbul, Türkiye
  8. First Name: Sibel
    Last Name: Kabukçu Hacıoğlu
    Degree(s): MD
    Organization: Department of Hematology, Pamukkale University Faculty of Medicine, Denizli, Türkiye
  9. First Name: Güldane
    Last Name: Cengiz Seval
    Degree(s): MD
    Organization: Department of Hematology, Ankara University, Faculty of Medicine, Ankara, Türkiye
  10. First Name: Meral
    Last Name: Beksaç
    Degree(s): MD
    Organization: Department of Hematology, Ankara Liv Hospital, Istinye University, Ankara, Türkiye
Background: A variant in the BNIP1 gene (rs28199) has been reported to be associated with multiple myeloma (MM) risk (Macauda et al., Interlymph-Heidelberg Consortium). We have recently reported that this variant is present in 13 of 18 familial MM cases (72.2%). In this study, we expanded our familial cases to analyze the rs28199 variant and aimed to compare it to non-familial MM and healthy populations.

Methods: A total of 32 familial MM and 30 non-familial MM cases were included in the study from hematology centers in Türkiye. Targeted NGS sequencing was utilized to investigate the germline variant from patients’ peripheral blood samples. Allele frequencies of the study group were compared to the Türkiye Genome Project data.

Results: 65.6% (n=21) of the familial and 40% (n=12) of the non-familial MM cases were positive for the BNIP1 variant, revealing a significant association between the variant and familial MM (OR: 2.86 (95% CI: 1.02-8.04), p=0.04). Among the variant-positive patients, the rates of homozygosity were 47.6% (n=12) in the familial and 8.3% (n=1) in the non-familial MM cases (OR: 10, (95% CI: 1.08-91.98), p=0.02). The variant allele frequencies were 0.48 and 0.22 in familial and non-familial MM cases, respectively (p=0.00). Likewise, rs28199 allele frequency among familial MM cases was also more frequent than the frequency observed within germline whole genome data of healthy population (0.48 vs 0.32, p=0.02).

Conclusion: This study shows that the germline BNIP1 variant (rs28199) when particularly in a homozygous state, is associated with familial MM.