#4604
Germline predisposition to neuroendocrine tumours of the pancreas (pNEN) based on mutations in DNA repair genes – BRCA1, BRCA2, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11
Introduction:
Neuroendocrine tumours of the pancreas (pNEN) rank as the second most common epithelial neoplasms after pancreatic adenocarcinoma, with increasing prevalence and a mortality rate of 60%. Identifying germline mutations in DNA repair genes such as CHEK2, BRCA1/2, and MUTYH within pNEN cases may pave the way for personalised diagnostics and therapies.
Conference:
Presenting Author:
Authors:
Jurecka Lubieniecka B,
Ros-Mazurczyuk M,
Oczko-Wojciechowska M,
Cortez A,
Handkiewicz-Junak D,
Keywords:
pNEN,
DNA repair genes,
#4168
BRCA gene mutations and NEN – Is it just random or a meaningful coincidence?
Introduction:
A BRCA mutation denotes a genetic alteration found in either the BRCA1 or BRCA2 genes, both of which function as tumor suppressors. BRCA mutations are widely acknowledged for their link to breast and ovarian cancers, and rarely, to other malignancies such as the pancreas and prostate. Noteworthy, there have been limited reports associating BRCA mutations with NEN, and no possible co-relation to certain racial/ethnic populations has been reported to date.
Conference:
Presenting Author:
Bel-Ange A
Authors:
Bel-Ange A,
Maimon O,
Grozinsky-Glasberg S,
Keywords:
BRCA gene mutation,
NEN-neuroendocrine neoplasm,
#3953
Olaparib use in a patient diagnosed with BRCA2 mutated adrenocortical carcinoma: A case report
Introduction:
Adrenocortical carcinoma (ACC) is a highly lethal endocrine malignancy with an estimated annual incidence of 1.5–2 cases per million. Only a small percentage of ACC cases are associated with hereditary cancer syndromes while, equally only a few cases, have been reported with BRCA mutation. Targeted therapy of ACC with germline mutations is an area of research which renders the treatment approach challenging.
Conference:
Presenting Author:
Authors:
Kontana E,
Tikas I,
Boudina M,
Chrysoulidou A,
Andreadou A,
Keywords:
adrenocortical carcinoma,
brca2 mutation,
olaparib,
#3649
Influence of pathogenic somatic mutations on the survival rates of patients with neuroendocrine tumors of the gastrointestinal tract (NET GI)
Introduction:
Genomic sequencing of 40 tumors samples from patients diagnosed with NET GI was performed. Further, according to the results obtained, the survival rates of patients were evaluated.
Conference:
Presenting Author:
Androsova A
Authors:
Androsova A,
Orlova R,
Gordiev M,
Ivanova A,
Belyak N,
Keywords:
NET,
mutations,
BRCA,
POLE,
Genomic sequencing,
