0000000000991583
AUTHOR
Kerstin Rhiem
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Background The role of the BARD1 gene in breast cancer (BC) and ovarian cancer (OC) predisposition remains elusive, as published case-control investigations have revealed controversial results. We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Methods A total of 4469 female index patients with BC, 451 index patients with OC, and 2767 geographically matched female control individuals were screened for loss-of-function (LoF) mutations and potentially damaging rare missense variants in BARD1. All patients met the …
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen re…
AGO Recommendations for the Surgical Therapy of the Axilla After Neoadjuvant Chemotherapy: 2021 Update
Geburtshilfe und Frauenheilkunde 81(10), 1112-1120 (2021). doi:10.1055/a-1499-8431
The "Laparoscopic Neuro-Navigation" -- LANN: from a functional cartography of the pelvic autonomous neurosystem to a new field of laparoscopic surgery
It is the objective of this study to etablish the technique of laparoscopic exposure of all pelvic somatic and autonomous nerves. In all our patients who underwent a laparoscopic surgical approach of the retroperitoneum, exposure and assessment of the exposed nerves using laparoscopic neuro-navigation were performed. Laparoscopic surgery allows the surgical approach to all pelvic nerves, particularly to the sciatic nerve, the pudendal nerve and the splanchnic pelvic nerves. We describe a cartography of the functional anatomy of the pelvic plexus and elaborate on the concept of "laparoscopic pelvic functional surgery". © 2004 Taylor & Francis.
Additional file 1: of Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Table S1. Inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for BRCA1 and BRCA2 germline testing. Table S2. Genotype, phenotype and cancer family history of familial BC index patients carrying heterozygous germline loss-of-function (LoF) variants in the BARD1 gene (transcript NM_000465.3). Table S3. Prevalence of heterozygous germline LoF variants identified in the BARD1 gene (transcript NM_000465.3). Table S4. Potentially damaging rare missense variants identified in the BARD1 gene (transcript NM_000465.3). (DOCX 76 kb)
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…
The "neurologic hypothesis": A new concept in the pathogenesis of the endometriosis?
To cartograph the retroperitoneal infiltration of deep-infiltrating endometriosis of the rectovaginal space, we report on 467 patients who underwent laparoscopic/vaginal surgery for deep-infiltrating adenomyosis of the rectovaginal space. Exact localisation of the locoregional extension and of secondary infiltrating localisation where noted. The cervix and the rectovaginal ligament were mostly involved, while isolated lesions of the rectovaginal space were very rare. Comparisons of the most involved sites show an absolute correlation with the anatomical repartition of the pelvic sympathetic nervous system. We postulate a new "neurologic theory" which could be one more explanation for the de…