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Article: BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.

Ahmad, Olfat / Sutter, Christian / Hirsch, Steffen / Pfister, Stefan M / Schaaf, Christian P

2023 Volume 21, Issue 1, Page(s) 11

Abstract: A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing ...

Abstract	A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such as BRCA1/2, the identification of founder variants in a certain population could help designing customized cost-effective cancer screening panels. This advantage has been best utilized in designing a customized breast cancer BRCA screening panel for the Ashkenazi Jews (AJ) population, composed of the three BRCA founder variants which account for approximately 90% of identified BRCA alterations. Indeed, the high prevalence of pathogenic BRCA1/2 variants among AJ (~ 2%) has additionally contributed to make population-based screening cost-effective in comparison to family-history-based screening. In Jordan there are multiple demographic characteristics supporting the proposal of a founder effect. A high consanguinity rate of ~ 57% in the nineties of the last century and ~ 30% more recently is a prominent factor, in addition to inbreeding which is often practiced by different sub-populations of the country.This review explains the concept of founder effect, then applies it to analyze published Jordanian BRCA variants, and concludes that nine pathogenic (P) and likely pathogenic (LP) BRCA2 variants together with one pathogenic BRCA1 variant are potential founder variants. Together they make up 43% and 55% of all identified BRCA1/2 alterations in the two largest studied cohorts of young patients and high-risk patients respectively. These variants were identified based on being recurrent and either specific to ethnic groups or being novel. In addition, the report highlights the required testing methodologies to validate these findings, and proposes a health economic evaluation model to test cost-effectiveness of a population-based customized BRCA screening panel for the Jordanian population. The aim of this report is to highlight the potential utilization of founder variants in establishing customized cancer predisposition services, in order to encourage more population-based genomic studies in Jordan and similar populations.
Language	English
Publishing date	2023-07-03
Publishing country	Poland
Document type	Journal Article ; Review
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-023-00256-2
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Article ; Online: Germline testing for homologous recombination repair genes-opportunities and challenges.

Hirsch, Steffen / Gieldon, Laura / Sutter, Christian / Dikow, Nicola / Schaaf, Christian P

Genes, chromosomes & cancer

2020 Volume 60, Issue 5, Page(s) 332–343

Abstract: Pathogenic variants in the BRCA1 and BRCA2 genes are well known causes of hereditary breast and ovarian cancer. Other genes involved in the homologous recombination pathway can also be associated with increased probability of cancer development, for ... ...

Abstract	Pathogenic variants in the BRCA1 and BRCA2 genes are well known causes of hereditary breast and ovarian cancer. Other genes involved in the homologous recombination pathway can also be associated with increased probability of cancer development, for example, breast and ovarian cancer, prostate and pancreatic cancer, colorectal cancer, and even childhood tumors like medulloblastoma. Traditionally, patients and families likely to harbor a genetic predisposition have been identified using personal and family history. Several checklists and risk prediction tools have proven to be useful in the clinic. Through the widespread application of next generation sequencing of tumor tissue, a growing number of individuals with genetic cancer predisposition is now identified molecularly, even in the absence of a suggestive family history. Any constitutional variant identified during molecular genetic testing has to be assessed for its relevance, both functionally and in the context of patient phenotype. Variant curation is time consuming, but has been increasingly standardized by introduction of several guidelines to allow reliable and reproducible classification of constitutional variants. Variant classification by expert panels using data mining tools, evidence-based decision trees and gene specific criteria represents the gold standard. Participation of geneticists in molecular tumor boards facilitates the curation of potential constitutional variants, germline validation and thus directing the patient to appropriate counselling and care pathways. Due to the high relevance of germline variants for treatment and surveillance of the index patient and predictive testing and surveillance of relatives, only pathogenic or likely pathogenic variants must be used for clinical decision-making.
Language	English
Publishing date	2020-10-29
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1018988-9
ISSN	1098-2264 ; 1045-2257
ISSN (online)	1098-2264
ISSN	1045-2257
DOI	10.1002/gcc.22900
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Article ; Online: Spontaneous splenic rupture in an active duty Marine upon return from Iraq: a case report.

Rice, Jason P / Sutter, Christian M

Journal of medical case reports

2010 Volume 4, Page(s) 353

Abstract: Introduction: Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an ... ...

Abstract	Introduction: Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an active duty Marine with spontaneous splenic rupture upon return from a six-month deployment in Iraq. Case presentation: A previously healthy 30-year-old Caucasian male active duty Marine presented with abdominal pain, fever and diarrhea after deployment to Iraq in support of Operation Iraqi Freedom. Based on clinical and radiographic evidence, a diagnosis of spontaneous splenic rupture was ultimately suspected. After exploratory laparotomy with confirmation of rupture, splenectomy was performed, and the patient made a full, uneventful recovery. Histopathologic examination revealed mild splenomegaly with a ruptured capsule of undetermined cause. Conclusion: Spontaneous splenic rupture is a rare event that may lead to life-threatening hemorrhage if not diagnosed and treated quickly. Although the cause of this patient's case was unknown, atraumatic splenic rupture has been associated with a variety of infectious diseases and demonstrates some risks the active duty military population may face while on deployment. Having an awareness of these pathogens and their role in splenic rupture, clinicians caring for military personnel must be prepared to recognize and treat this potentially fatal complication.
Language	English
Publishing date	2010-11-05
Publishing country	England
Document type	Journal Article
ZDB-ID	2269805-X
ISSN	1752-1947 ; 1752-1947
ISSN (online)	1752-1947
ISSN	1752-1947
DOI	10.1186/1752-1947-4-353
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Article ; Online: Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.

Rippinger, Nathalie / Fischer, Christine / Sinn, Hans-Peter / Dikow, Nicola / Sutter, Christian / Rhiem, Kerstin / Grill, Sabine / Cremer, Friedrich W / Nguyen, Huu P / Ditsch, Nina / Kast, Karin / Hettmer, Simone / Kratz, Christian P / Schott, Sarah

Cancer medicine

2021 Volume 10, Issue 21, Page(s) 7747–7758

Abstract: Background: Women with Li-Fraumeni syndrome (LFS) have elevated breast cancer (BC) risk. Optimal BC treatment strategies in this population are yet unknown.: Methods: BC subtypes and treatment were retrospectively investigated between December 2016 ... ...

Abstract	Background: Women with Li-Fraumeni syndrome (LFS) have elevated breast cancer (BC) risk. Optimal BC treatment strategies in this population are yet unknown. Methods: BC subtypes and treatment were retrospectively investigated between December 2016 and January 2019 in a multicentre study. BC risks were evaluated according to the type of surgery. Results: Thirty-five women of our study population (35/44; 79.5%) had developed 36 breast lesions at first diagnosis at a mean age of 34 years. Those breast lesions comprised 32 invasive BCs (89%), three ductal carcinoma in situ alone (8%) and one malignant phyllodes tumour (3%). BCs were mainly high-grade (18/32), of no special type (NST; 31/32), HER2-enriched (11/32) or luminal-B-(like)-type (10/32). Affected women (n = 35) received breast-conserving surgery (BCS, n = 17) or a mastectomy (ME, n = 18) including seven women with simultaneous contralateral prophylactic mastectomy (CPM) at first diagnosis. Nineteen women suffered 20 breast or locoregional axillary lesions at second diagnosis with mean age of 36. Median time between first and second diagnosis was 57 months; median time to contra- and ipsilateral recurrence depended on surgical strategies (BCS: 46 vs. unilateral ME: 93 vs. bilateral ME > 140 months). Women with a primary treatment of solitaire therapeutic ME suffered from contralateral BC earlier compared to those with therapeutic ME and CPM (median: 93 vs. >140 months). Conclusion: Aggressive BC subtypes occur among women with LFS. Surgical treatment, i.e. ME and CPM, may prolong time to a second BC diagnosis. Conclusion on long-term survival benefit is pending. Individual competing tumour risks and long-term outcomes need to be taken into consideration.
MeSH term(s)	Adult ; Axilla/pathology ; Breast Neoplasms/complications ; Breast Neoplasms/pathology ; Breast Neoplasms/surgery ; Female ; Germany ; Humans ; Li-Fraumeni Syndrome/complications ; Lymphatic Metastasis ; Mastectomy ; Mastectomy, Segmental ; Middle Aged ; Neoplasm Recurrence, Local/diagnosis ; Patient Satisfaction ; Retrospective Studies ; Risk Factors ; Time Factors
Language	English
Publishing date	2021-09-26
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2659751-2
ISSN	2045-7634 ; 2045-7634
ISSN (online)	2045-7634
ISSN	2045-7634
DOI	10.1002/cam4.4300
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Article ; Online: Corrigendum to 'Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry' [Eur J Cancer 180 (2023) 71-84].

European journal of cancer (Oxford, England : 1990)

2023 Volume 184, Page(s) 200–201

Language	English
Publishing date	2023-03-21
Publishing country	England
Document type	Published Erratum
ZDB-ID	82061-1
ISSN	1879-0852 ; 0277-5379 ; 0959-8049 ; 0964-1947
ISSN (online)	1879-0852
ISSN	0277-5379 ; 0959-8049 ; 0964-1947
DOI	10.1016/j.ejca.2023.02.024
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Article ; Online: Spontaneous splenic rupture in an active duty Marine upon return from Iraq

Sutter Christian M / Rice Jason P

Journal of Medical Case Reports, Vol 4, Iss 1, p

a case report

2010 Volume 353

Abstract: Abstract Introduction Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of ...

Abstract	Abstract Introduction Atraumatic splenic rupture is a rare event that has been associated with several infectious disease processes. In the active duty military population, potential exposure to these pathogens is significant. Here we discuss the case of an active duty Marine with spontaneous splenic rupture upon return from a six-month deployment in Iraq. Case presentation A previously healthy 30-year-old Caucasian male active duty Marine presented with abdominal pain, fever and diarrhea after deployment to Iraq in support of Operation Iraqi Freedom. Based on clinical and radiographic evidence, a diagnosis of spontaneous splenic rupture was ultimately suspected. After exploratory laparotomy with confirmation of rupture, splenectomy was performed, and the patient made a full, uneventful recovery. Histopathologic examination revealed mild splenomegaly with a ruptured capsule of undetermined cause. Conclusion Spontaneous splenic rupture is a rare event that may lead to life-threatening hemorrhage if not diagnosed and treated quickly. Although the cause of this patient's case was unknown, atraumatic splenic rupture has been associated with a variety of infectious diseases and demonstrates some risks the active duty military population may face while on deployment. Having an awareness of these pathogens and their role in splenic rupture, clinicians caring for military personnel must be prepared to recognize and treat this potentially fatal complication.
Keywords	Medicine ; R
Subject code	333
Language	English
Publishing date	2010-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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Article: Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.

Schäfer, Mattias / Kadmon, Martina / Schmidt, Wolfgang / Treiber, Irmgard / Moog, Ute / Sutter, Christian / Stehr, Maximilian

European journal of pediatric surgery reports

2016 Volume 4, Issue 1, Page(s) 17–21

Abstract: Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated ... ...

Abstract	Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with
Language	English
Publishing date	2016-05-13
Publishing country	Germany
Document type	Case Reports
ZDB-ID	2674016-3
ISSN	2194-7627 ; 2194-7619
ISSN (online)	2194-7627
ISSN	2194-7619
DOI	10.1055/s-0036-1582443
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Article: 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.

Wappenschmidt, Barbara / Hauke, Jan / Faust, Ulrike / Niederacher, Dieter / Wiesmüller, Lisa / Schmidt, Gunnar / Groß, Evi / Gehrig, Andrea / Sutter, Christian / Ramser, Juliane / Rump, Andreas / Arnold, Norbert / Meindl, Alfons

Geburtshilfe und Frauenheilkunde

2020 Volume 80, Issue 4, Page(s) 410–429

Abstract: More than ten years ago, the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) set up a panel of experts (VUS Task Force) which was tasked with reviewing the classifications of genetic variants reported by individual centres of the GC- ... ...

Abstract	More than ten years ago, the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) set up a panel of experts (VUS Task Force) which was tasked with reviewing the classifications of genetic variants reported by individual centres of the GC-HBOC to the central database in Leipzig and reclassifying them, where necessary, based on the most recent data. When it evaluates variants, the VUS Task Force must arrive at a consensus. The resulting classifications are recorded in a central database where they serve as a basis for ensuring the consistent evaluation of previously known and newly identified variants in the different centres of the GC-HBOC. The standardised VUS evaluation by the VUS Task Force is a key element of the recall system which has also been set up by the GC-HBOC. The system will be used to pass on information to families monitored and managed by GC-HBOC centres in the event that previously classified variants are reclassified based on new information. The evaluation algorithm of the VUS Task Force was compiled using internationally established assessment methods (IARC, ACMG, ENIGMA) and is presented here together with the underlying evaluation criteria used to arrive at the classification decision using a flow chart. In addition, the characteristics and special features of specific individual risk genes associated with breast and/or ovarian cancer are discussed in separate subsections. The URLs of relevant databases have also been included together with extensive literature references to provide additional information and cover the scope and dynamism of the current state of knowledge on the evaluation of genetic variants. In future, if criteria are updated based on new information, the update will be published on the website of the GC-HBOC ( https://www.konsortium-familiaerer-brustkrebs.de/ ).
Language	English
Publishing date	2020-04-21
Publishing country	Germany
Document type	Journal Article
ZDB-ID	80111-2
ISSN	1438-8804 ; 0016-5751 ; 1615-3359
ISSN (online)	1438-8804
ISSN	0016-5751 ; 1615-3359
DOI	10.1055/a-1110-0909
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Article: Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.

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

Cancers

2022 Volume 14, Issue 13

Abstract: Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of ... ...

Abstract	Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of PVs in BRCA1/2 and 23 non-BRCA1/2 genes using a sample of 614 patients with mBC, recruited through the centers of the German Consortium for Hereditary Breast and Ovarian Cancer. A high proportion of patients with mBC carried PVs in BRCA2 (23.0%, 142/614) and BRCA1 (4.6%, 28/614). The prevalence of BRCA1/2 PVs was 11.0% in patients with mBC without a family history of breast and/or ovarian cancer. Patients with BRCA1/2 PVs did not show an earlier disease onset than those without. The predominant clinical presentation of tumor phenotypes was estrogen receptor (ER)-positive, progesterone receptor (PR)-positive, and HER2-negative (77.7%); further, 10.2% of the tumors were triple-positive, and 1.2% were triple-negative. No association was found between ER/PR/HER2 status and BRCA1/2 PV occurrence. Comparing the prevalence of protein-truncating variants (PTVs) between patients with mBC and control data (ExAC, n = 27,173) revealed significant associations of PTVs in both BRCA1 and BRCA2 with mBC (BRCA1: OR = 17.04, 95% CI = 10.54−26.82, p < 10−5; BRCA2: OR = 77.71, 95% CI = 58.71−102.33, p < 10−5). A case-control investigation of 23 non-BRCA1/2 genes in 340 BRCA1/2-negative patients and ExAC controls revealed significant associations of PTVs in CHEK2, PALB2, and ATM with mBC (CHEK2: OR = 3.78, 95% CI = 1.59−7.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02−36.02, p < 10−5; ATM: OR = 3.36, 95% CI = 0.89−8.96, p = 0.04). Overall, our findings support the benefit of multi-gene panel testing in patients with mBC irrespective of their family history, age at disease onset, and tumor phenotype.
Language	English
Publishing date	2022-07-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers14133292
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Article ; Online: Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Borde, Julika / Laitman, Yael / Blümcke, Britta / Niederacher, Dieter / Weber-Lassalle, Konstantin / Sutter, Christian / Rump, Andreas / Arnold, Norbert / Wang-Gohrke, Shan / Horváth, Judit / Gehrig, Andrea / Schmidt, Gunnar / Dutrannoy, Véronique / Ramser, Juliane / Hentschel, Julia / Meindl, Alfons / Schroeder, Christopher / Wappenschmidt, Barbara / Engel, Christoph /

Kuchenbaecker, Karoline / Schmutzler, Rita K / Friedman, Eitan / Hahnen, Eric / Ernst, Corinna

BMC cancer

2022 Volume 22, Issue 1, Page(s) 706

Abstract: Background: Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and extrinsic ... ...

Abstract	Background: Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and extrinsic factors. Here we assess the contribution of polygenic risk scores (PRSs) to the occurrence of extreme phenotypes with respect to age at onset, namely, primary BC diagnosis before the age of 35 years (early diagnosis, ED) and cancer-free survival until the age of 60 years (late/no diagnosis, LD) in female BRCA1/2 PV carriers. Methods: Overall, estrogen receptor (ER)-positive, and ER-negative BC PRSs as developed by Kuchenbaecker et al. for BC risk discrimination in female BRCA1/2 PV carriers were employed for PRS computation in a curated sample of 295 women of European descent carrying PVs in the BRCA1 (n=183) or the BRCA2 gene (n=112), and did either fulfill the ED criteria (n=162, mean age at diagnosis: 28.3 years, range: 20 to 34 years) or the LD criteria (n=133). Binomial logistic regression was applied to assess the association of standardized PRSs with either ED or LD under adjustment for patient recruitment criteria for germline testing and localization of BRCA1/2 PVs in the corresponding BC or ovarian cancer (OC) cluster regions. Results: For BRCA1 PV carriers, the standardized overall BC PRS displayed the strongest association with ED (odds ratio (OR) = 1.62; 95% confidence interval (CI): 1.16-2.31, p<0.01). Additionally, statistically significant associations of selection for the patient recruitment criteria for germline testing and localization of pathogenic PVs outside the BRCA1 OC cluster region with ED were observed. For BRCA2 PV carriers, the standardized PRS for ER-negative BC displayed the strongest association (OR = 2.27, 95% CI: 1.45-3.78, p<0.001). Conclusions: PRSs contribute to the development of extreme phenotypes of female BRCA1/2 PV carriers with respect to age at primary BC diagnosis. Construction of optimized PRS SNP sets for BC risk stratification in BRCA1/2 PV carriers should be the task of future studies with larger, well-defined study samples. Furthermore, our results provide further evidence, that localization of PVs in BC/OC cluster regions might be considered in BC risk calculations for unaffected BRCA1/2 PV carriers.
MeSH term(s)	Age of Onset ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast Neoplasms/pathology ; Female ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Humans ; Mutation ; Ovarian Neoplasms/genetics ; Risk Factors
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein
Language	English
Publishing date	2022-06-27
Publishing country	England
Document type	Journal Article
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-022-09780-1
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