Lorena Moreno, Miriam Cuatrecasas, Elia Grau, Míriam Potrony, Josep Oriola, Joan Anton Puig-Butillé, Teresa Ocaña, Teresa Ramón Y Cajal, Francesc Balaguer, Sabela Carballal
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引用次数: 0
Abstract
Early-onset breast cancer in a woman prompted referral for genetic counseling, due to suspected hereditary cancer predisposition. After collecting a detailed personal and family medical history and providing comprehensive pre-test counseling, the patient consented to a multigene panel test for breast cancer susceptibility. Genetic analysis revealed a germline variant, c.662 C > T p.(Pro221Leu), in the STK11 gene, initially classified as a variant of unknown significance (VUS). Given the possibility of Peutz-Jeghers syndrome (PJS), a thorough review of the patient's extended family history was undertaken to identify clinical features consistent with the syndrome. The maternal grandmother's lineage revealed a striking aggregation of malignancies, including eight cases of breast cancer (ages 34-73), one suspected gastric cancer before age 50, and five individuals with colorectal polyps. On the maternal grandfather's side, nine breast cancer cases (ages 34-77), one childhood skin cancer, and one endometrial cancer at age 56 were described. Segregation studies in multiple relatives demonstrated co-segregation of the STK11 variant with disease. This evidence supported the reclassification of the STK11 c.622 C > T p.(Pro221Leu) variant as likely pathogenic. Consequently, carriers were enrolled in syndrome-specific surveillance protocols for PJS. This case underscores the essential role of comprehensive clinical and familial assessment, alongside segregation studies, in refining variant interpretation and enabling personalized, syndrome-specific management strategies.
期刊介绍:
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.