B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Genetic Susceptibility due to Moderate Breast Cancer Risk Gene CHEK2: a case report
Tekijät: Kankuri-Tammilehto Minna
Kustantaja: JSciMedCentral
Julkaisuvuosi: 2021
Journal: Journal of Clinical Oncology and Research
Artikkelin numero: 1065
Vuosikerta: 9
Numero: 1
eISSN: 2373-938X
Verkko-osoite: https://www.jscimedcentral.com/Oncology/oncology-9-1065.pdf
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/68751544
Today we are increasingly interested in finding out the hereditary variants of moderate risk from a cancer patient. Multigene next generation sequencing (NGS) panel technology, massive parallel sequencing, can efficiently and economically analyze genes in 3 to 6 weeks. There are agreed criteria based on which to suspect hereditary breast cancer and thus to make a referral to clinical genetic unit. The topic research subject is to investigate the cancer risk associated with moderate risk genes. Appropriate follow-up recommendations for persons with moderate genetic susceptibility pathogenic variants to breast cancer are updated regularly as scientific research is published. This is a case report on two CHEK2 families in which pathogenic variant in CHEK2 gene does not alone explain the breast cancer risk of the patients. This is also a mini review of genetic susceptibility of CHEK2 moderate breast cancer gene.
Ladattava julkaisu This is an electronic reprint of the original article. |