Santa Casa de Misericórdia de GoiâniaPatients with breast cancer or unaffected individuals, who have an important family history of this tumor and associated tumors, should be referred for genetic counseling. Genetic counseling is a multi-stage and multiprofessional communication process. Genetic testing is a part of this process. With the knowledge of genetics, oncology and genetic counseling along with the incorporation into clinical practice of these molecular tests, we intend to demonstrate the profile of the patients who underwent tests of hereditary predisposition to cancer. Data contained in my patients’ records were collected between January 2016 and February 2017. All these patients were submitted to genetic tests based in the NCCN 2016 guidelines . Amongst the collected cases (29) only 1 was male. The majority of the tested patients aged between 31 and 45 years (41%). 52% were classified as VUS (variant of uncertain significance). The others were classified as probably pathogenic and pathogenic variants, with PALB2 (22%) and TP53 (22%) genes being the most affected, followed up by BRCA1 (14%) and BRCA2 (14%). Although it contributes to understanding the individual risk of cancer, caution is advised when interpreting these results. A negative result does not imply in a truly negative result. The knowledge of the procedure employed by the laboratory and the need for new techniques to evaluate certain genes who have large rearrangements leads us to seek for new sources of information and knowledge.breast cancer, cancer risk , genetic mutation
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GENETIC TESTS AT THE BREAST SURGEON´S OFFICE – PERSONAL EXPERIENCE
ABREU, D. C. B. (Santa Casa de Misericórdia de Goiânia), ABREU, P. P. B. (Santa Casa de Misericórdia de Goiânia)
Santa Casa de Misericórdia de GoiâniaPatients with breast cancer or unaffected individuals, who have an important family history of this tumor and associated tumors, should be referred for genetic counseling. Genetic counseling is a multi-stage and multiprofessional communication process. Genetic testing is a part of this process. With the knowledge of genetics, oncology and genetic counseling along with the incorporation into clinical practice of these molecular tests, we intend to demonstrate the profile of the patients who underwent tests of hereditary predisposition to cancer. Data contained in my patients’ records were collected between January 2016 and February 2017. All these patients were submitted to genetic tests based in the NCCN 2016 guidelines . Amongst the collected cases (29) only 1 was male. The majority of the tested patients aged between 31 and 45 years (41%). 52% were classified as VUS (variant of uncertain significance). The others were classified as probably pathogenic and pathogenic variants, with PALB2 (22%) and TP53 (22%) genes being the most affected, followed up by BRCA1 (14%) and BRCA2 (14%). Although it contributes to understanding the individual risk of cancer, caution is advised when interpreting these results. A negative result does not imply in a truly negative result. The knowledge of the procedure employed by the laboratory and the need for new techniques to evaluate certain genes who have large rearrangements leads us to seek for new sources of information and knowledge.breast cancer, cancer risk , genetic mutation