Cargando…

The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status

This study aimed to investigate whether female BRCA1- and BRCA2 mutation carriers have a reduced ovarian reserve status, based on serum anti-Mullerian hormone (AMH) levels, antral follicle count (AFC) and ovarian response to ovarian hyperstimulation. A prospective, multinational cohort study was per...

Descripción completa

Detalles Bibliográficos
Autores principales:	C.E, Drechsel Katja, C., van Tilborg Theodora, J.C., Eijkemans Marinus, G.W.M., Lentjes Eef, Irene, Homminga, Mariette, Goddijn, J.T., van Golde Ron, Willem, Verpoest, D., Lichtenbelt Klaske, J.M., Broekmans Frank, M.E., Bos Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2022
Materias:	Reproductive Genetics: Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9810575/ https://www.ncbi.nlm.nih.gov/pubmed/35705781 http://dx.doi.org/10.1007/s43032-022-00997-w

Ejemplares similares

BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD
por: Derks-Smeets, I. A. P., et al.
Publicado: (2017)

Individualized ovarian stimulation in IVF/ICSI treatment: it is time to stop using high FSH doses in predicted low responders
por: Leijdekkers, Jori A, et al.
Publicado: (2019)

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
por: Cline, Melissa S., et al.
Publicado: (2018)

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers
por: Heemskerk-Gerritsen, Bernadette A. M., et al.
Publicado: (2019)

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
por: Hart, Steven N., et al.
Publicado: (2020)

Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up
por: Olivier, R I, et al.
Publicado: (2004)

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
por: Mohammadi, Leila, et al.
Publicado: (2009)

Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers
por: van Sprundel, T C, et al.
Publicado: (2005)

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.
por: Lancaster, J. M., et al.
Publicado: (1998)

Screening for germline rearrangements in BRCA1 and BRCA2 in Norwegian families with breast or breast/ovarian cancer
por: Van Ghelue, M, et al.
Publicado: (2005)

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients
por: Díez, O, et al.
Publicado: (1999)

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
por: Maxwell, Kara N., et al.
Publicado: (2017)

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer
por: Steinmann, D, et al.
Publicado: (2001)

The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers
por: Iqbal, J, et al.
Publicado: (2012)

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2
por: Ligtenberg, M J L, et al.
Publicado: (1999)

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
por: Purnomosari, Dewajani, et al.
Publicado: (2007)

A model of the BRCA1/BRCA2 network
por: Pujana, MA, et al.
Publicado: (2005)

Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers
por: Zaaijer, Leendert H, et al.
Publicado: (2016)

Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI
por: Veltman, J., et al.
Publicado: (2008)

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
por: Osorio, A, et al.
Publicado: (2011)

Cumulative live birth rates in low-prognosis women
por: Leijdekkers, Jori A, et al.
Publicado: (2019)

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history
por: Gómez García, Encarna B, et al.
Publicado: (2009)

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
por: Chenevix-Trench, Georgia, et al.
Publicado: (2007)

Prostate screening uptake in Australian BRCA1 and BRCA2 carriers
por: McKinley, Joanne M, et al.
Publicado: (2007)

HIF-1α Overexpression in Ductal Carcinoma In Situ of the Breast in BRCA1 and BRCA2 Mutation Carriers
por: van der Groep, Petra, et al.
Publicado: (2013)

Rapid evolution of BRCA1 and BRCA2 in humans and other primates
por: Lou, Dianne I, et al.
Publicado: (2014)

Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply’ probability models
por: Bodmer, D, et al.
Publicado: (2006)

The pathology of familial breast cancer: The pre-BRCA1/BRCA2 era - historical perspectives
por: van de Vijver, Marc J
Publicado: (1999)

Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study
por: de Jonge, Marthe M, et al.
Publicado: (2021)

Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
por: Dines, Jennifer N., et al.
Publicado: (2020)

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
por: Osorio, A, et al.
Publicado: (2009)

Clinical Characteristics of Ovarian Cancer Classified by BRCA1, BRCA2, and RAD51C Status
por: Cunningham, J. M., et al.
Publicado: (2014)

Mutational analysis of BRCA1 and BRCA2 genes in Spanish women with early-onset breast cancer
por: Martínez-Ferrandis, JI, et al.
Publicado: (2000)

Toxicity of (neo)adjuvant chemotherapy for BRCA1- and BRCA2-associated breast cancer
por: Drooger, Jan C., et al.
Publicado: (2016)

Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study
por: van Barele, Mark, et al.
Publicado: (2022)

Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations
por: Birkbak, Nicolai Juul, et al.
Publicado: (2013)

Sirtuin inhibition is synthetic lethal with BRCA1 or BRCA2 deficiency
por: Bajrami, Ilirjana, et al.
Publicado: (2021)

Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer.
por: Beckmann, M. W., et al.
Publicado: (1996)

Clinical significance of large rearrangements in BRCA1 and BRCA2
por: Judkins, Thaddeus, et al.
Publicado: (2012)

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas
por: Weren, Robbert D.A., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ioqsp8u6dlm6kpphg1ltglaald