Cargando…

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

SIMPLE SUMMARY: Male breast cancer (mBC) is a rare disease associated with a high prevalence of pathogenic germline variants (PVs) in the BRCA2 gene. However, data regarding other breast cancer (BC) predisposition genes are limited or conflicting. We investigated the prevalence of PVs in BRCA1/2 and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265404/ https://www.ncbi.nlm.nih.gov/pubmed/35805063 http://dx.doi.org/10.3390/cancers14133292

Ejemplares similares

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers
por: Borde, Julika, et al.
Publicado: (2022)

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
por: Hauke, Jan, et al.
Publicado: (2018)

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
por: Wappenschmidt, Barbara, et al.
Publicado: (2020)

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
por: Weber-Lassalle, Nana, et al.
Publicado: (2018)

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
por: Weber-Lassalle, Nana, et al.
Publicado: (2019)

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer
por: Lepkes, Louisa, et al.
Publicado: (2021)

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families
por: Schnurbein, Gioia, et al.
Publicado: (2013)

Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
por: Wappenschmidt, Barbara, et al.
Publicado: (2012)

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer
por: Wappenschmidt, B, et al.
Publicado: (2005)

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history
por: Engel, Christoph, et al.
Publicado: (2018)

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
por: Frank, Bernd, et al.
Publicado: (2007)

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility
por: Keupp, Katharina, et al.
Publicado: (2019)

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study
por: Burwinkel, Barbara, et al.
Publicado: (2006)

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature
por: Herold, Natalie, et al.
Publicado: (2018)

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk
por: Hartmaier, Ryan J, et al.
Publicado: (2009)

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
por: Sepahi, Ilnaz, et al.
Publicado: (2019)

Satisfaction and Quality of Life of Healthy and Unilateral Diseased BRCA1/2 Pathogenic Variant Carriers after Risk-Reducing Mastectomy and Reconstruction Using the BREAST-Q Questionnaire
por: Herold, Natalie, et al.
Publicado: (2022)

Identification and refinement of two regions on chromosomal arm 15q involved in breast cancer progression
por: Rhiem, K, et al.
Publicado: (2001)

Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer
por: Rhiem, Kerstin, et al.
Publicado: (2023)

Haplotype analysis in German families with recurrent BRCA1 and BRCA2 mutations
por: Wappenschmidt, B, et al.
Publicado: (2001)

Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study
por: Brédart, Anne, et al.
Publicado: (2022)

TP53-binding protein variants and breast cancer risk: a case-control study
por: Frank, Bernd, et al.
Publicado: (2005)

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome
por: Stiller, Sarah, et al.
Publicado: (2023)

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)
por: Hauke, Jan, et al.
Publicado: (2022)

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
por: Dumont, Martine, et al.
Publicado: (2022)

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas
por: Freihoff, D, et al.
Publicado: (1999)

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk
por: Frank, B, et al.
Publicado: (2005)

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant
por: Brédart, Anne, et al.
Publicado: (2021)

“You Always Have It in the Back of Your Mind”—Feelings, Coping, and Support Needs of Women with Pathogenic Variants in Moderate-Risk Genes for Hereditary Breast Cancer Attending Genetic Counseling in Germany: A Qualitative Interview Study
por: Stracke, Claudia, et al.
Publicado: (2022)

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge
por: Grill, Sabine, et al.
Publicado: (2020)

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer
por: Herold, Natalie, et al.
Publicado: (2023)

Association of NCOA3 (AIB1) polymorphisms with breast cancer risk
por: Burwinkel, B, et al.
Publicado: (2005)

Patient-Centered Care in Breast Cancer Genetic Clinics
por: Brédart, Anne, et al.
Publicado: (2018)

Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways
por: Heublein, Sabine, et al.
Publicado: (2015)

DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA
por: Tang, Qiuqiong, et al.
Publicado: (2016)

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study
por: Rhiem, Kerstin, et al.
Publicado: (2012)

Low Incidence of Germline and Somatic Alterations in the E-Cadherin Gene in Lobular Breast Carcinoma
por: Schmutzler, R. K., et al.
Publicado: (1999)

Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer – Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
por: Ataseven, Beyhan, et al.
Publicado: (2020)

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients
por: Böck, Julia, et al.
Publicado: (2018)

Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study
por: Brédart, Anne, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hsd157u1ir0r4rtc8t8f7ai50k