Abstract P5-09-17: Risk reducing interventions among BRCA 1 and 2 female carriers in Newfoundland and Labrador: A provincial analysis
Notice bibliographique
Résumé
Abstract Introduction Germline mutations in the tumour suppressor genes BRCA 1 and 2 result in a significant increase in cancer predisposition. Female carriers can have up to a 50-70% chance of developing a breast malignancy in their life time and a risk of 20-40% for ovarian cancer. Management options for women with a BRCA mutation include screening with annual mammography and magnetic resonance imaging (MRI), prophylactic surgery and chemoprevention. There is substantial evidence that preventative strategies may reduce the risk of developing breast and ovarian cancer and in some cases improve survival. Newfoundland and Labrador (NL) is the most easterly province in Canada with a population of 525 983. It is geographically and genetically isolated with the majority of residents from English and Irish ancestry. While no one single founder effect has been identified, geographically distinct mutations for both BRCA 1 and 2 have been described. The objective of this study is to characterize the population of BRCA mutation carriers in NL and to evaluate their uptake of risk reducing interventions. Methods All BRCA 1 and 2 carriers tested through the Provincial Medical Genetics program between 1996 - 2018 were captured. Inclusion criteria for this study were females ≥ 18 years of age residing in the province. Demographic, clinical history and information on uptake of risk reducing interventions were abstracted from the electronic medical record. Descriptive statistical analysis was performed. Results One hundred and sixty one women were identified that met inclusion criteria (38% of patients had BRCA1 and 62% had BRCA 2 mutations). Of those unaffected carriers eligible for mammography and MRI screening, only 58% were adherent in the last 18 months. Consultation with a medical or gynecological oncologist increased mammogram screening within the last 18 months to 71% compared with 29% of women who did not see an oncologist. MRI screening increased to 80% for those assessed by oncology versus 20% who did not. For those women who underwent prophylactic surgeries, 27% had bilateral mastectomies with the majority having breast reconstruction (>70%). Fifty two percent of carriers had bilateral salpingo-oophorectomies (BSO) at a median age of 45 years in BRCA 1 and 51 years in BRCA 2. Fifty-three women had a diagnosis of breast cancer and 8 had ovarian cancer. In this cohort, most underwent genetic testing after their diagnosis of cancer (>80%). Median age at presentation of breast cancer was 44 years versus 54 years for ovarian cancer. Conclusion This study demonstrates that women with BRCA 1 and 2 mutations are not adequately availing of risk reducing interventions for breast and ovarian cancer. Furthermore, most patients with malignancy did not undergo genetic testing until after they were diagnosed with cancer. Patient focused research designed to explore factors which may contribute is planned. Consultation with an oncologist increased the likelihood of adherence to breast cancer screening. This highlights the importance of specialty care for patients with a hereditary predisposition to breast and ovarian cancer. Citation Format: Seal MD, Roebothan A, Gabriel A, Dawson L. Risk reducing interventions among BRCA 1 and 2 female carriers in Newfoundland and Labrador: A provincial analysis [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-09-17.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,005 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,002 |
| Bibliométrie | 0,002 | 0,004 |
| Études des sciences et des technologies | 0,002 | 0,000 |
| Communication savante | 0,001 | 0,000 |
| Science ouverte | 0,002 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,004 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».