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

serial: '8'
sid: '127394'
uuid: 62c8c04e-d728-40fa-8f23-1e417a27702c
uri: /egrp/cohortconsortium/abstracts
created: '1726125470'
completed: '1726126945'
changed: '1726519399'
in_draft: '0'
current_page: ''
remote_addr: 10.208.24.118
uid: '0'
langcode: en
webform_id: cohort_2024_abstracts_submission
entity_type: node
entity_id: '1467'
locked: '0'
sticky: '0'
notes: ''
data:
  additional_authors:
    - add_author_degree: MD
      add_author_first_name: Timur
      add_author_last_name: Tuncalı
      add_author_middle: ''
      add_author_organization: 'Department of Medical Genetics, Ankara University Faculty of Medicine, Ankara, Turkey'
    - add_author_degree: PhD
      add_author_first_name: 'Hasan Yalım'
      add_author_last_name: Akın
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Ankara University, Faculty of Medicine, Ankara, Türkiye'
    - add_author_degree: MD
      add_author_first_name: 'Ayşe '
      add_author_last_name: Salihoğlu
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Türkiye'
    - add_author_degree: MD
      add_author_first_name: 'Ömür Gökmen'
      add_author_last_name: Sevindik
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Medipol University, Faculty of Medicine, Istanbul, Türkiye'
    - add_author_degree: MD
      add_author_first_name: 'Hakkı Onur'
      add_author_last_name: Kırkızlar
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Trakya University Faculty of Medicine, Edirne, Türkiye'
    - add_author_degree: MD
      add_author_first_name: Siret
      add_author_last_name: Ratip
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Acibadem Healthcare Group, Istanbul, Türkiye'
    - add_author_degree: MD
      add_author_first_name: Sevgi
      add_author_last_name: 'Kalayoğlu Beşışık'
      add_author_middle: ''
      add_author_organization: 'Department of Internal Medicine, Division of Hematology, Istanbul University Medical Faculty, Istanbul, Türkiye'
    - add_author_degree: MD
      add_author_first_name: Sibel
      add_author_last_name: 'Kabukçu Hacıoğlu'
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Pamukkale University Faculty of Medicine, Denizli, Türkiye'
    - add_author_degree: MD
      add_author_first_name: Güldane
      add_author_last_name: 'Cengiz Seval'
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Ankara University, Faculty of Medicine, Ankara, Türkiye'
    - add_author_degree: MD
      add_author_first_name: Meral
      add_author_last_name: Beksaç
      add_author_middle: ''
      add_author_organization: 'Department of Hematology, Ankara Liv Hospital, Istinye University, Ankara, Türkiye'
  degree_s_: 'MD, Internal Medicine Specialisst, Medical Oncology Fellow'
  email: erman_akkus@yahoo.com
  first_name: Erman
  last_name: Akkus
  organization: 'Ankara University Faculty of Medicine, Department of Medical Oncology, Ankara, Türkiye'
  poster_title: 'A Germline Variant of BNIP1 Gene (rs28199) is Associated with Familial Multiple Myeloma '
  short_biography_: |
    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. 
  title: MD