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[Clinical Cancer Genetics: A guide for the pathologist]
Noémie Basset1, Camille Desseignés2, Christilla Boucher1
1Département de génétique, DMU BioGeM, UF d'Oncogénétique, groupe hospitalier universitaire Pitié-Salpêtrière, AP-HP, Sorbonne université, 47-83, boulevard de l'Hôpital 75013 Paris, France.
Annales De Pathologie
|February 13, 2020
Summary
Identifying genetic susceptibility to cancer is crucial for patient management. Pathologists
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Identifying cancer genetic susceptibility is vital for long-term patient management.
- Pathologists play a crucial role by supporting germline genetic testing decisions through diagnostic findings.
- Specific cancer types and molecular markers (e.g., Lynch syndrome, hereditary leiomyomatosis) indicate potential genetic predispositions.
Purpose of the Study:
- To outline the process of identifying and managing patients with suspected genetic susceptibility to cancer.
- To highlight the collaborative roles of pathologists, geneticists, and genetic counselors.
- To discuss the implications of germline genetic testing for patient care and family screening.
Main Methods:
- Referral of suspected cases to clinical cancer genetics clinics.
- Detailed personal and familial information collection, potentially using bioinformatics tools or scores.
- Germline genetic testing via next-generation sequencing on blood samples by expert laboratories.
Main Results:
- Pathologists' diagnoses can trigger germline genetic testing.
- Identification of pathogenic variants leads to modified patient management (surveillance, surgery, treatment adaptation).
- Familial variants can be tested in relatives.
Conclusions:
- Germline genetic testing significantly impacts cancer patient management and family screening.
- Future directions include closer collaboration between molecular pathologists, medical oncologists, and cancer geneticists.
- Mainstreaming germline testing for oncologists is an anticipated development.
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