دورية أكاديمية
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
| العنوان: | Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 |
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| المؤلفون: | O'Mahony, Denise G., Ramus, Susan J., Southey, Melissa C., Meagher, Nicola S., Hadjisavvas, Andreas, John, Esther M., Hamann, Ute, Imyanitov, Evgeny N., Andrulis, Irene L., Sharma, Priyanka, Daly, Mary B., Hake, Christopher R., Weitzel, Jeffrey N., Jakubowska, Anna, Godwin, Andrew K., Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A., Mai, Phuong L., Claes, Kathleen B. M., Teixeira, Manuel R., Chung, Wendy K., Lazaro, Conxi, Hulick, Peter J., Toland, Amanda E., Pedersen, Inge Sokilde, Neuhausen, Susan L., Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A., Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L., Domchek, Susan M., Osorio, Ana, Garcia, Maria J., Karlan, Beth Y., De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T., Doerk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre Andre B. A., Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K., Wappenschmidt, Barbara, Easton, Douglas F., Tischkowitz, Marc, Singer, Christian F., Tan, Yen Yen, Whittemore, Alice S., Sieh, Weiva, Brenton, James D., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Antoniou, Antonis C., Goldgar, David E., Spurdle, Amanda B., Michailidou, Kyriaki, Mourits, Marian J. E., Lesueur, Fabienne |
| المساهمون: | Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2023 |
| المجموعة: | Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| مصطلحات موضوعية: | Germline mutations, Uncertain significance, Clinical-significance, Unknown significance, Sequence variants, Carcinoma, Recommendations, Frequency, Series, Classification, 3122 Cancers |
| الوصف: | BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management. ; Peer reviewed |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 37076566 |
| العلاقة: | O'Mahony , D G , Ramus , S J , Southey , M C , Meagher , N S , Hadjisavvas , A , John , E M , Hamann , U , Imyanitov , E N , Andrulis , I L , Sharma , P , Daly , M B , Hake , C R , Weitzel , J N , Jakubowska , A , Godwin , A K , Arason , A , Bane , A , Simard , J , Soucy , P , Caligo , M A , Mai , P L , Claes , K B M , Teixeira , M R , Chung , W K , Lazaro , C , Hulick , P J , Toland , A E , Pedersen , I S , Neuhausen , S L , Vega , A , de la Hoya , M , Nevanlinna , H , Dhawan , M , Zampiga , V , Danesi , R , Varesco , L , Gismondi , V , Vellone , V G , James , P A , Janavicius , R , Nikitina-Zake , L , Nielsen , F C , van Overeem Hansen , T , Pejovic , T , Borg , A , Rantala , J , Offit , K , Montagna , M , Nathanson , K L , Domchek , S M , Osorio , A , Garcia , M J , Karlan , B Y , De Fazio , A , Bowtell , D , McGuffog , L , Leslie , G , Parsons , M T , Doerk , T , Speith , L-M , dos Santos , E S , da Costa , A A B A , Radice , P , Peterlongo , P , Papi , L , Engel , C , Hahnen , E , Schmutzler , R K , Wappenschmidt , B , Easton , D F , Tischkowitz , M , Singer , C F , Tan , Y Y , Whittemore , A S , Sieh , W , Brenton , J D , Yannoukakos , D , Fostira , F , Konstantopoulou , I , Soukupova , J , Vocka , M , Chenevix-Trench , G , Pharoah , P D P , Antoniou , A C , Goldgar , D E , Spurdle , A B , Michailidou , K , Mourits , M J E & Lesueur , F 2023 , ' Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 ' , British Journal of Cancer , vol. 128 , no. 12 , pp. 2283-2294 . https://doi.org/10.1038/s41416-023-02263-5Test; 47149927-466d-429f-a2f1-25649fdf6701; http://hdl.handle.net/10138/563694Test; 000989800600004 |
| الإتاحة: | http://hdl.handle.net/10138/563694Test |
| حقوق: | cc_by ; openAccess ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.75F265B2 |
| قاعدة البيانات: | BASE |
| تدمد: | 37076566 |
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