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  • 1.
    Aravidis, Christos
    et al.
    Univ Athens, Sch Med, Evangelismos Hosp, Crit Care Dept,Cytogenet Unit, GR-11527 Athens, Greece..
    Konialis, Christopher P.
    Intergenet Hellas, Diagnost Genet Ctr, Dept Mol Genet & Preimplantat Genet Diag, Athens, Greece..
    Pangalos, Constantinos G.
    Intergenet Hellas, Diagnost Genet Ctr, Dept Mol Genet & Preimplantat Genet Diag, Athens, Greece..
    Kosmaidou, Zoi
    Alexandra Hosp, Dept Genet, Athens, Greece..
    A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature2014In: The Journal of Maternal-Fetal & Neonatal Medicine, ISSN 1476-7058, E-ISSN 1476-4954, Vol. 27, no 14, p. 1502-1506Article, review/survey (Refereed)
    Abstract [en]

    Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, hearing impairment and intellectual disability. The syndrome is defined molecularly by a unique point mutation c.749C>G in exon 7 of the FGFR3 gene which results to an amino acid substitution p. Pro250Arg of the protein product. Despite the fact that the mutation rate at this nucleotide is one of the most frequently described in human genome, few Muenke familial case reports are published in current literature. We describe individuals among three generations of a Greek family who are carriers of the same mutation. Medical record and physical examination of family members present a wide spectrum of clinical manifestations. In particular, a 38-year-old woman and her father appear milder clinical findings regarding craniofacial characteristics compared to her uncle and newborn female child. This familial case illustrates the variable expressivity of Muenke syndrome in association with an identical gene mutation.

  • 2.
    Bengtsson, Daniel
    et al.
    Linkoping Univ, Dept Clin & Expt Med, S-58183 Linkoping, Sweden.;Kalmar Cty Hosp, Dept Internal Med, S-39185 Kalmar, Sweden..
    Joost, Patrick
    Lund Univ, Inst Clin Sci, Dept Oncol & Pathol, S-22184 Lund, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Stenmark, Marie Askmalm
    Linkoping Univ, Div Clin Genet, Dept Clin & Expt Med, S-58185 Linkoping, Sweden.;Off Med Serv, Dept Clin Genet, S-22184 Lund, Sweden.;Lund Univ, Div Clin Genet, Dept Lab Med, S-22184 Lund, Sweden..
    Backman, Ann-Sofie
    Karolinska Univ Hosp, Ctr Digest Dis, S-17176 Stockholm, Sweden.;Karolinska Inst, Inst Med, S-17176 Stockholm, Sweden..
    Melin, Beatrice
    Umea Univ, Dept Radiat Sci, Oncol, S-90187 Umea, Sweden..
    von Salome, Jenny
    Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden..
    Zagoras, Theofanis
    Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, S-41345 Gothenburg, Sweden..
    Gebre-Medhin, Samuel
    Lund Univ, Div Clin Genet, Dept Lab Med, S-22184 Lund, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden..
    Burman, Pia
    Lund Univ, Dept Endocrinol, Skane Univ Hosp, SE-20502 Malmo, Sweden..
    Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort2017In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 102, no 11, p. 3928-3932Article in journal (Refereed)
    Abstract [en]

    Context: Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year-old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation and displayed defect MMR function. Sixteen months later, the tumor had developed into a carcinoma with widespread liver metastases. The patient prompted us to perform a nationwide study in LS. Nationwide Study: A diagnosis consistent with a pituitary tumor was sought for in the Swedish National Patient Registry. In 910 patients with LS, representing all known cases in Sweden, another two clinically relevant pituitary tumors were found: an invasive nonsecreting macroadenoma and a microprolactinoma (i.e., in total three tumors vs. one expected). Conclusion: Germline mutations in MMR genes may contribute to the development and/or the clinical course of pituitary tumors. Because tumors with MMR mutations are susceptible to treatment with immune checkpoint inhibitors, we suggest to actively ask for a family history of LS in the workup of patients with aggressive pituitary tumors.

  • 3.
    Jiao, Xiang
    et al.
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Marikkannu, Rajeshwari
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Rantala, Johanna
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Picelli, Simone
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Adamovic, Tatjana
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Liu, Tao
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Maguire, Paula
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Kremeyer, Barbara
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Luo, Liping
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Von Holst, Susanna
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Kontham, Vinaykumar
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Thutkawkorapin, Jessada
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Margolin, Sara
    Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden..
    Du, Quan
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Lundin, Johanna
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Michailidou, Kyriaki
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Cyprus Inst Neurol & Genet, Dept Elect Microscopy Mol Pathol, Nicosia, Cyprus..
    Bolla, Manjeet K.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Wang, Qin
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Dennis, Joe
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Lush, Michael
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Ambrosone, Christine B.
    Roswell Pk Canc Inst, Buffalo, NY 14263 USA..
    Andrulis, Irene L.
    Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada..
    Anton-Culver, Hoda
    Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA..
    Antonenkova, Natalia N.
    NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, Byelarus..
    Arndt, Volker
    German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany..
    Beckmann, Matthias W.
    Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynaecol & Obstet, Erlangen, Germany..
    Blomqvist, Carl
    Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, Helsinki, Finland..
    Blot, William
    Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.;Int Epidemiol Inst, Rockville, MD USA..
    Boeckx, Bram
    VIB, VIB Ctr Canc Biol, Leuven, Belgium.;Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium..
    Bojesen, Stig E.
    Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, Herlev, Denmark.;Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark..
    Bonanni, Bernardo
    Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy..
    Brand, Judith S.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Brauch, Hiltrud
    Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany.;Univ Tubingen, Tubingen, Germany.;German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany..
    Brenner, Hermann
    German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.;German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany.;German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany.;Natl Ctr Tumor Dis NCT, Heidelberg, Germany..
    Broeks, Annegien
    Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands..
    Bruning, Thomas
    Ruhr Univ Bochum, Inst Prevent & Occupat Med, German Social Accid Insurance, Bochum, Germany..
    Burwinkel, Barbara
    Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany..
    Cai, Qiuyin
    Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA..
    Chang-Claude, Jenny
    German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany.;Univ Canc Ctr Hamburg, Univ Med Ctr Hamburg Eppendorf, Res Grp Genet Canc Epidemiol, Hamburg, Germany. Haukeland Hosp, Dept Oncol, Bergen, Norway. Univ Bergen, Inst Med, Sect Oncol, Bergen, Norway. Akershus Univ Hosp, Dept Pathol, Lorenskog, Norway. Akershus Univ Hosp, Dept Breast Endocrine Surg, Lorenskog, Norway..
    Couch, Fergus J.
    Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA..
    Cox, Angela
    Univ Sheffield, Dept Oncol & Metab, Sheffield Inst Nucle Acids SInFoNiA, Sheffield, S Yorkshire, England..
    Cross, Simon S.
    Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England..
    Deming-Halverson, Sandra L.
    Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA..
    Devilee, Peter
    Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands.;Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands..
    dos-Santos-Silva, Isabel
    London Sch Hyg & Trop Med, Dept Noncommun Dis Epidemiol, London, England..
    Dork, Thilo
    Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany..
    Eriksson, Mikael
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Fasching, Peter A.
    Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynaecol & Obstet, Erlangen, Germany.;Univ Calif Los Angeles, Dept Med, David Geffen Sch Med, Los Angeles, CA 90024 USA.;Univ Calif Los Angeles, Div Hematol & Oncol, Los Angeles, CA USA..
    Figueroa, Jonine
    Univ Edinburgh, Med Sch, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland.;NCI, Div Canc Epidemiol & Genet, Rockville, MD USA..
    Flesch-Janys, Dieter
    Univ Med Ctr Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany.;Univ Med Ctr Hamburg Eppendorf, Clin Canc Registry, Dept Canc Epidemiol, Hamburg, Germany..
    Flyger, Henrik
    Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Breast Surg, Herlev, Denmark..
    Gabrielson, Marike
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Garcia-Closas, Montserrat
    NCI, Div Canc Epidemiol & Genet, Rockville, MD USA..
    Giles, Graham G.
    Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Gonzalez-Neira, Anna
    Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain..
    Guenel, Pascal
    Univ Paris Saclay, Univ Paris Sud, INSERM, Ctr Res Epidemiol & Populat Hlth CESP,Canc & Envi, Villejuif, France..
    Guo, Qi
    Univ Cambridge, Dept Publ Hlth & Primary Care, Cardiovasc Epidemiol Unit, Cambridge, England..
    Gundert, Melanie
    Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany..
    Haiman, Christopher A.
    Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Hallberg, Emily
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA..
    Hamann, Ute
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany..
    Harrington, Patricia
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Hooning, Maartje J.
    Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands..
    Hopper, John L.
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Huang, Guanmengqian
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany..
    Jakubowska, Anna
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Jones, Michael E.
    Inst Canc Res, Div Genet & Epidemiol, London, England..
    Kerin, Michael J.
    Natl Univ Ireland, Sch Med, Galway, Ireland..
    Kosma, Veli-Matti
    Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland..
    Kristensen, Vessela N.
    Univ Oslo, Hosp Radiumhosp, Inst Canc Res, Dept Canc Genet, Oslo, Norway. Oslo Univ Hosp, Dept Breast & Endocrine Surg, Oslo, Norway. Vestre Viken Hosp, Dept Res, Drammen, Norway. Univ Oslo, Hosp Radiumhosp, Inst Canc Res, Dept Tumor Biol, Oslo, Norway.;Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway.;Univ Oslo, Oslo Univ Hosp, Dept Clin Mol Biol, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Natl Advisory Unit Late Effects Canc Treatment, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Dept Oncol, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Dept Radiol & Nucl Med, Oslo, Norway. Oslo Univ Hosp, Oslo, Norway..
    Lambrechts, Diether
    VIB, VIB Ctr Canc Biol, Leuven, Belgium.;Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium..
    Le Marchand, Loic
    Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA..
    Lubinski, Jan
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Mannermaa, Arto
    Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland..
    Martens, John W. M.
    Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands..
    Meindl, Alfons
    Tech Univ Munich, Div Gynaecol & Obstet, Munich, Germany..
    Milne, Roger L.
    Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Mulligan, Anna Marie
    Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.;Univ Hlth Network, Lab Med Program, Toronto, ON, Canada..
    Neuhausen, Susan L.
    Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA..
    Nevanlinna, Heli
    Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland..
    Peto, Julian
    London Sch Hyg & Trop Med, Dept Noncommun Dis Epidemiol, London, England..
    Pylkaes, Katri
    Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu, Finland..
    Radice, Paolo
    INT, Fdn IRCCS, Ist Ricovero Cura Carattere Sci, Dept Res, Milan, Italy..
    Rhenius, Valerie
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Sawyer, Elinor J.
    Kings Coll London, Guys Hosp, Res Oncol, London, England..
    Schmidt, Marjanka K.
    Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands.;Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands..
    Schmutzler, Rita K.
    Univ Hosp Cologne, Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany.;Univ Hosp Cologne, Ctr Integrated Oncol, Cologne, Germany.;Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany..
    Seynaeve, Caroline
    Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands..
    Shah, Mitul
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Simard, Jacques
    Laval Univ, Univ Quebec, Res Ctr, Ctr Hosp,Gen Ctr, Quebec City, PQ, Canada..
    Southey, Melissa C.
    Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia..
    Swerdlow, Anthony J.
    Inst Canc Res, Div Genet & Epidemiol, London, England.;Inst Canc Res, Div Breast Canc Res, London, England. Peter MacCallum Canc Ctr, Melbourne, Vic, Australia..
    Truong, Therese
    Univ Paris Saclay, Univ Paris Sud, INSERM, Ctr Res Epidemiol & Populat Hlth CESP,Canc & Envi, Villejuif, France..
    Wendt, Camilla
    Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden..
    Winqvist, Robert
    Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu, Finland..
    Zheng, Wei
    Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA..
    Benitez, Javier
    Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain.;Ctr Invest Red Enfermedades Raras CIBERER, Valencia, Spain..
    Dunning, Alison M.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Pharoah, Paul D. P.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Easton, Douglas F.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Czene, Kamila
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Hall, Per
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Lindblom, Annika
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    PHIP - a novel candidate breast cancer susceptibility locus on 6q14.12017In: OncoTarget, ISSN 1949-2553, E-ISSN 1949-2553, Vol. 8, no 61, p. 102769-102782Article in journal (Refereed)
    Abstract [en]

    Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.

  • 4.
    Lagerstedt-Robinson, Kristina
    et al.
    Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, L5 03, SE-17176 Stockholm, Sweden..
    Rohlin, Anna
    Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, SE-41345 Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Clin Genet, SE-40530 Gothenburg, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Melin, Beatrice
    Umea Univ, Div Oncol, Dept Radiat Sci, SE-90187 Umea, Sweden..
    Nordling, Margareta
    Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, SE-41345 Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Clin Genet, SE-40530 Gothenburg, Sweden..
    Stenmark-Askmalm, Marie
    Linkoping Univ, Dept Oncol, SE-58183 Linkoping, Sweden.;Univ Lund Hosp, Dept Clin Genet, SE-22185 Lund, Sweden..
    Lindblom, Annika
    Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, L5 03, SE-17176 Stockholm, Sweden..
    Nilbert, M. E. F.
    Lund Univ, Div Oncol & Pathol, Dept Clin Sci, SE-22381 Lund, Sweden.;Univ Copenhagen, Hvidovre Hosp, Clin Res Ctr, DK-2650 Hvidovre, Denmark..
    Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population2016In: Oncology Reports, ISSN 1021-335X, E-ISSN 1791-2431, Vol. 36, no 5, p. 2823-2835Article in journal (Refereed)
    Abstract [en]

    Lynch syndrome caused by constitutional mismatch-repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the mutation spectrum in Sweden with the aim to provide a population-based perspective on the contribution from the different MMR genes, the various types of mutations and the influence from founder mutations. Mutation data were collected on a national basis from all laboratories involved in genetic testing. Mutation analyses were performed using mainly Sanger sequencing and multiplex ligation-dependent probe amplification. A total of 201 unique disease-predisposing MMR gene mutations were identified in 369 Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families. A large variety of mutations were identified with splice site mutations being the most common mutation type in MLH1 and frameshift mutations predominating in MSH2 and MSH6. Large deletions of one or several exons accounted for 21% of the mutations in MLH1 and MSH2 and 22% in PMS2, but were rare (4%) in MSH6. In 66% of the Lynch syndrome families the variants identified were private and the effect from founder mutations was limited and predominantly related to a Finnish founder mutation that accounted for 15% of the families with mutations in MLH1. In conclusion, the Swedish Lynch syndrome mutation spectrum is diverse with private MMR gene mutations in two-thirds of the families, has a significant contribution from internationally recognized mutations and a limited effect from founder mutations.

  • 5.
    Marikkannu, Rajeshwari
    et al.
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.;Akademiska Univ Hosp, Rudbecklab, Dept Clin Genet, Uppsala, Sweden..
    Rantala, Johanna
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Picelli, Simone
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Adamovic, Tatjana
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Keihas, Markku
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Liu, Tao
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Kontham, Vinaykumar
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Nilsson, Daniel
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Lindblom, Annika
    Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
    Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer2015In: Anticancer Research, ISSN 0250-7005, E-ISSN 1791-7530, Vol. 35, no 6, p. 3155-3165Article in journal (Refereed)
    Abstract [en]

    Background: Known breast cancer-predisposing genes account for fewer than 25% of all familial breast cancer cases and further studies are required to find the remaining high-and moderate-risk genes. We set-out to couple linkage analysis using microsatellite marker data and sequence analysis of linked regions in 13 non-BRCA1/2 families in order to find novel susceptibility loci and high-penetrant genes. Materials and Methods: Genotyping with 540 fluorescently-labeled microsatellite markers located on the 23 chromosomes at 7.25 cM resolution was used for primary linkage analysis and an additional 40 markers were used for fine-mapping of loci with a logarithm of odds (LOD) or heterogeneity LOD (HLOD) score greater than one. Whole-exome sequencing data of 28 members from all 13 families were used for the bioinformatics sequence analysis on the linked regions of these families. Results: Linkage analysis identified three loci on chromosome 18q as a putative region of interest (overall LOD=1, HLOD=1.2). Sequencing analysis of the three linked regions on 18q and mutation prediction algorithms did reveal three probable damaging variants. Conclusion: Overall, our study identified three weakly linked loci on 18q and three probable damaging variants of interest in the 13 families with breast cancer.

  • 6.
    Tzortzatos, Gerasimos
    et al.
    Karolinska Inst, Karolinska Univ Hosp, Div Obstet & Gynecol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Div Obstet & Gynecol, S-14186 Stockholm, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Lindblom, Annika
    Karolinska Inst, Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden.;Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, S-17176 Stockholm, Sweden..
    Mints, Miriam
    Karolinska Inst, Karolinska Univ Hosp, Div Obstet & Gynecol, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden..
    Tham, Emma
    Karolinska Inst, Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden.;Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, S-17176 Stockholm, Sweden..
    Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients2015In: Oncology Letters, ISSN 1792-1074, E-ISSN 1792-1082, Vol. 9, no 4, p. 1782-1786Article in journal (Refereed)
    Abstract [en]

    Cowden syndrome (CS) is an autosomal dominant disorder characterized by multiple hamartomas in the breast, thyroid and endometrium, with a prevalence of 1 per 250,000. Females with CS have a 21-28% lifetime risk of developing uterine cancer. Germline mutations in the phosphatase and tensin homolog (PTEN) gene, a tumor suppressor gene, are responsible for 30-80% of CS cases. PTEN is a nine-exon gene, located on chromosome 10q23.3, which encodes the 403 amino acid PTEN protein. It negatively regulates the phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin pathway, affecting various cellular processes and signaling pathways. The present study examined whether PTEN mutations are present in CS-like families with uterine cancer (UC). UC patients underwent surgery at Karolinska University Hospital, Stockholm, Sweden (2008-2012). Pedigrees were analyzed and 54 unrelated CS-like families were identified. CS-like families were defined as having at least one occurrence of uterine cancer and one of breast cancer, as well as at least one additional Cowden-associated tumor (uterine, breast, thyroid, colon or kidney cancer) in the same individual or in first-degree relatives. Genomic DNA was amplified using polymerase chain reaction, and DNA sequencing analysis of all nine exons of the PTEN gene was conducted. No germline PTEN mutations or polymorphisms were identified. Germline PTEN mutations are rare in CS-like families with uterine cancer, therefore, genetic screening must be restricted to patients that meet the strict National Comprehensive Cancer Network criteria. Gynecologists must be aware of the CS criteria and identify potential cases of CS in females where uterine cancer is the sentinel cancer.

  • 7.
    von Salome, Jenny
    et al.
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden..
    Boonstra, Philip S.
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA..
    Karimi, Masoud
    Karolinska Univ Hosp, Radiumhemmet, Dept Oncol, Stockholm, Sweden..
    Silander, Gustav
    Umea Univ, Dept Radiat Sci, Umea, Sweden..
    Stenmark-Askmalm, Marie
    Linkoping Univ, Dept Oncol, Linkoping, Sweden.;Off Med Serv, Div Lab Med, Dept Clin Genet, Lund, Sweden..
    Gebre-Medhin, Samuel
    Off Med Serv, Div Lab Med, Dept Clin Genet, Lund, Sweden.;Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden..
    Aravidis, Christos
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Nilbert, Mef
    Lund Univ, Div Oncol & Pathol, Dept Clin Sci, Lund, Sweden.;Univ Copenhagen, Hvidovre Hosp, Clin Res Ctr, Hvidovre, Denmark..
    Lindblom, Annika
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden..
    Lagerstedt-Robinson, Kristina
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden..
    Genetic anticipation in Swedish Lynch syndrome families2017In: PLoS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 13, no 10, article id e1007012Article in journal (Refereed)
    Abstract [en]

    Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, has been suggested in LS. Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in heritable cancer. The purpose of this study is to determine whether anticipation can be shown in a large cohort of Swedish LS families referred to the regional departments of clinical genetics in Lund, Stockholm, Linkoping, Uppsala and Umea between the years 1990-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2 families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age of diagnosis per generation. An alternative analysis using a mixed-effects Cox proportional hazards model (COX-R) estimates a hazard ratio of exp(0.171), or about 1.19, for age of diagnosis between consecutive generations. LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years/generation for NREM and hazard ratio of 1.33 for COX-R) and PMS2 (7.3 years/generation and hazard ratio of 1.86). The estimated anticipation effects for MLH1 and MSH6 are smaller.

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