This retrospective study showcases the largest comprehensive characterization of the hereditary cancer genetics in India and South Asian region till date, demonstrating a substantial burden of inherited cancer susceptibility and distinct gene-cancer associations across major tumor types.
Germline P/LP variants are common in young male patients with cancer, particularly at younger ages and among those meeting testing criteria, and these findings support broader implementation of germline testing to inform management and familial risk assessment.
H. Abdel-Razeq, Hira Bani Hani, Seif Alafeef et al.· Frontiers in Oncology· 0 citations
This study investigated germline genetic variants in 165 Tunisian breast cancer patients using targeted next-generation sequencing of a multigene cancer panel to identify pathogenic or likely pathogenic variants in BRCA1 and BRCA2 genes and identified P/LPVs in other genes.
N. Ammous-Boukhris, Rania Abdelmaksoud-Dammak, W. Ben Kridis et al.· Cancers· 0 citations
The findings emphasise the need for tailored genetic evaluation and further research to guide evidence-based management for this complex patient population and the need for tailored genetic evaluation for this complex patient population of cancer patients.
R. Wong, Yi-Ong Pei, S. Ow et al.· Frontiers in Oncology· 0 citations
This study represents the first and largest investigation of germline CNVs in the BRCA1 and BRCA2 genes within this population of breast cancer patients and suggests that routine screening for such alterations may be unwarranted in this specific population group.
Panupong Sukpan, Natthapon Khongcharoen, S. Samphao· Asian Pacific Journal of Can...· 0 citations
A prevalence of 19.3% is revealed for germline BRCA1/2 mutations in the tested population, with BRCA1 p.(Ser1379Ter) emerging as a recurrent variant, warranting further investigation as a possible founder mutation.
Samah N. Saharti· Journal of King Saud Univers...· 0 citations
This work strengthens the role of ATM in cancer predisposition panels and supports its inclusion in French national hereditary cancer panel recommendations, together with implementation of appropriate surveillance and counseling for individuals harboring ATM P/LP variants.
Iulian O. Ban, L. Mansour-Hendili, Ana María Navarro et al.· Genetics in Medicine· 0 citations
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