Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region

Elalaoui, Siham Chafai; Laarabi, Fatima Zahra; Afif, Lamiae; Lyahyai, Jaber; Ratbi, Ilham; Jaouad, Imane Cherkaoui; Doubaj, Yassamine; Sahli, Meryem; Ouhenach, Mouna; Sefiani, Abdelaziz

doi:10.1007/s10549-022-06622-3

Cited by 4 publications

(2 citation statements)

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“…This analysis did not define the type of BrCa mutation (6). The most common BrCa1/2 mutation defined by testing 163 Moroccan pa-tients with HBoC was the BRCA2 mutation, c.1310_1313del, presented in 33% of the patients (36). The BrCa1 c.211dup was the most common mutation among patients with HBoC in Tunisia, with a participation rate of 16.6%.…”

Section: Discussionmentioning

confidence: 94%

Hereditary breast and ovarian cancer – University Hospital of Split experiences

Petrić-Miše,

Katalenić,

Hrepić

et al. 2023

lib oncol

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Aim: To investigate the clinical and pathohistological tumor characteristics, treatment, and treatment outcomes in patients with hereditary breast and ovarian cancer who were diagnosed, treated, and monitored at the University Hospital of Split from October 1999 to April 2021. Methods: The data were collected retrospectively from the medical history of 15 patients. They included the patient’s age at diagnosis, family history of malignancies, histological subtype, grade, breast cancer immunophenotype, stage of disease, status and types of BRCA mutations, type of surgical and oncological treatment, the specifics of metachronous bilateral breast cancers, the specifics of synchronous breast and ovarian cancers, and the outcome of treatment through overall survival (OS). Results: The median age of patients at the time of diagnosis of breast cancer was 53 years, and for ovarian cancer it was 56 years. A positive family history was confirmed in 13 patients (87%). All ovarian cancer patients had a high-grade serous histologic type, most often diagnosed in FIGO stages III and IV. Breast cancers were most commonly diagnosed in stages IA and IIA, with equally represented triple-negative and luminal immunophenotypes. The most common mutation was BRCA1 c.5266dup. The median OS of our patients was not reached. Conclusion: The clinical features of patients, pathohistological characteristics of tumors, and treatment outcomes in our study population are comparable with reports in the literature, respecting the specifics of different nations and race

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Section: Discussionmentioning

confidence: 94%

Hereditary breast and ovarian cancer – University Hospital of Split experiences

Petrić-Miše,

Katalenić,

Hrepić

et al. 2023

lib oncol

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“…In most studies, there were no increased late tissue side-effects in the BRCA1/2 -mutated vs. non-mutated cohorts [ 53 , 54 , 55 , 56 ]. One explanation could be haploinsufficiency, which means that BRCA1/2 -mutated patients only have a germline mutation in one allele with a second functional allele [ 52 , 57 ]. This is contradicted by the mutation analysis of our cohort of BRCA1/2 mutation carriers, which clearly reveals a higher incidence of aberrations.…”

Section: Discussionmentioning

confidence: 99%

Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2

Zuhair Kassem,

Wunderle,

Kuhlmann

et al. 2023

CIMB

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Background: Individual radiosensitivity is an important factor in the occurrence of undesirable consequences of radiotherapy. The potential for increased radiosensitivity has been linked to highly penetrant heterozygous mutations in DNA repair genes such as BRCA1 and BRCA2. By studying the chromosomal radiosensitivity of BRCA1/2 mutation carriers compared to the general population, we study whether increased chromosomal radiation sensitivity is observed in patients with BRCA1/2 variants. Methods: Three-color-fluorescence in situ hybridization was performed on ex vivo-irradiated peripheral blood lymphocytes from 64 female patients with a heterozygous germline BRCA1/2 or BRCA1/2 mutation. Aberrations in chromosomes #1, #2 and #4 were analyzed. Mean breaks per metaphase (B/M) served as the parameter for chromosomal radiosensitivity. The results were compared with chromosomal radiosensitivity in a cohort of generally healthy individuals and patients with rectal cancer or breast cancer. Results: Patients with BRCA1/2 mutations (n = 64; B/M 0.47) overall showed a significantly higher chromosomal radiosensitivity than general healthy individuals (n = 211; B/M 0.41) and patients with rectal cancer (n = 379; B/M 0.44) and breast cancer (n = 147; B/M 0.45) without proven germline mutations. Chromosomal radiosensitivity varied depending on the locus of the BRCA1/2 mutation. Conclusions: BRCA1/2 mutations result in slightly increased chromosomal sensitivity to radiation. A few individual patients have a marked increase in radiation sensitivity. Therefore, these patients are at a higher risk for adverse therapeutic consequences.

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