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1. Full Text Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue‐specific time courses of mutation frequency but similar mutation types
by Hill, Kathleen A and Buettner, Victoria L and Halangoda, Asanga and Kunishige, Makoto and Moore, Stephen R and Longmate, Jeffrey and Scaringe, William A and Sommer, Steve S
Environmental and Molecular Mutagenesis, ISSN 0893-6692, 2004, Volume 43, Issue 2, pp. 110 - 120
Transgenic mouse mutation detection systems permit rapid determination of the frequency and type of mutations allowing direct examination of mutational markers... 
mutation frequency | thymus | jackpot mutation | liver | male germline | lacI | adipocytes | neurons | glia | tandem‐base mutations | fetus | Male germline | Neurons | Jackpot mutation | Liver | Fetus | Odipocytes | Glio | Lacl | Mutation frequency | Tandem-base mutations | Thymus | SPONTANEOUS MUTANT FREQUENCY | MOUSE | PERIPHERAL-BLOOD | SOMATIC MUTATIONS | DETECTION SYSTEM | AGING PROCESS | ENVIRONMENTAL SCIENCES | IN-VIVO | GENETICS & HEREDITY | CHROMOSOMAL DAMAGE | TOXICOLOGY | loci | tandem-base mutations | LACI TRANSGENIC MICE | T-LYMPHOCYTES | Mice, Inbred C57BL | Fetus - metabolism | Male | Mice, Transgenic | Mice, Inbred C3H | DNA - genetics | Organ Specificity - genetics | Animals | Aging - genetics | DNA Mutational Analysis | Female | Mice | Mutation
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2. Full Text Sarcomas in TP53 germline mutation carriers: A review of the IARC TP53 database
by Ognjanovic, Simona and Olivier, Magali and Bergemann, Tracy L and Hainaut, Pierre
Cancer, ISSN 0008-543X, 03/2012, Volume 118, Issue 5, pp. 1387 - 1396
BACKGROUND: Sarcoma is the index diagnosis of Li-Fraumeni syndrome (LFS), a familial predisposition to cancer that also includes brain cancer, breast cancer,... 
sarcoma | Surveillance | germline TP53 mutations | End Results | Epidemiology | IARC TP53 Database | Li-Fraumeni syndrome | NEOPLASMS | FAMILIAL SYNDROME | TUMORS | CHILDREN | BREAST-CANCER | P53 MUTATIONS | LI-FRAUMENI-SYNDROME | ONCOLOGY | MUTANT P53 | RHABDOMYOSARCOMA | SPECTRUM | United States - epidemiology | SEER Program | Age Factors | Genetic Association Studies | Humans | Germ-Line Mutation | Heterozygote | Sarcoma - diagnosis | Sarcoma - epidemiology | Genes, p53 - genetics | Sarcoma - genetics | Databases, Genetic - statistics & numerical data | Care and treatment | Diagnosis | Sarcoma
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3. Full Text Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations
by Sato, Katsutoshi and Koyasu, Mio and Nomura, Sachio and Sato, Yuri and Kita, Mizuho and Ashihara, Yuumi and Adachi, Yasue and Ohno, Shinji and Iwase, Takuji and Kitagawa, Dai and Nakashima, Eri and Yoshida, Reiko and Miki, Yoshio and Arai, Masami
Cancer Science, ISSN 1347-9032, 11/2017, Volume 108, Issue 11, pp. 2287 - 2294
In addition to BRCA 1 and BRCA 2, RAD 51C , PALB 2 and BRIP 1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in... 
BRIP | PALB | hereditary breast cancer | RAD | Japanese | 51C | BRIP1 | RAD51C | PALB2 | PROTEIN | AFFECTED RELATIVES | RISK | OVARIAN-CANCER | FANCONI-ANEMIA | BACH1 | NEGATIVE CHINESE WOMEN | REPLICATION FORKS | ONCOLOGY | GERMLINE MUTATIONS | SUSCEPTIBILITY GENE | Genetic Predisposition to Disease | Fanconi Anemia Complementation Group N Protein - genetics | Humans | Japan | Middle Aged | Fanconi Anemia Complementation Group Proteins - genetics | Exons - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Pedigree | Aged, 80 and over | Germ-Line Mutation | Adult | Female | RNA Helicases - genetics | Aged | BRCA2 Protein - genetics | BRCA mutations | Analysis | Genomics | Breast cancer | Genetic aspects | Disease susceptibility | Ovarian cancer | Cancer | Original
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4. Full Text Phosphatase and tensin homolog ( PTEN ) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency
by Tsujita, Yuki, MD and Mitsui-Sekinaka, Kanako, MD and Imai, Kohsuke, MD, PhD and Yeh, Tzu-Wen, MSc and Mitsuiki, Noriko, MD, PhD and Asano, Takaki, MD and Ohnishi, Hidenori, MD, PhD and Kato, Zenichiro, MD, PhD and Sekinaka, Yujin, MD and Zaha, Kiyotaka, MD and Kato, Tamaki, MD, PhD and Okano, Tsubasa, MD and Takashima, Takehiro, MD and Kobayashi, Kaoru, MD, PhD and Kimura, Mitsuaki, MD, PhD and Kunitsu, Tomoaki, MD and Maruo, Yoshihiro, MD, PhD and Kanegane, Hirokazu, MD, PhD and Takagi, Masatoshi, MD, PhD and Yoshida, Kenichi, MD, PhD and Okuno, Yusuke, MD, PhD and Muramatsu, Hideki, MD, PhD and Shiraishi, Yuichi, PhD and Chiba, Kenichi, BA and Tanaka, Hiroko, BSc and Miyano, Satoru, PhD and Kojima, Seiji, MD, PhD and Ogawa, Seishi, MD, PhD and Ohara, Osamu, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD and Morio, Tomohiro, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1672 - 1680.e10
Background Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess... 
Allergy and Immunology | primary immunodeficiency disease | phosphatase and tensin homolog | Activated phosphatidylinositol 3-kinase δ syndrome | catalytic subunit p110δ of phosphatidylinositol 3-kinase | Activated phosphatidylinositol 3-kinase delta syndrome | EXCISION CIRCLES | QUANTIFICATION | IMMUNOLOGY | IDENTIFICATION | COWDENS-SYNDROME | CXC CHEMOKINE RECEPTOR-5 | GUTHRIE CARDS | GENE | ALLERGY | GERMLINE MUTATIONS | TUMOR-SUPPRESSOR | T-CELLS | catalytic subunit p110 delta of phosphatidylinositol 3-kinase | PTEN Phosphohydrolase - genetics | Phosphorylation | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Child, Preschool | Male | Signal Transduction - genetics | Mutation - genetics | Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Tensins - metabolism | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child
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5. Full Text Revisiting Li-Fraumeni syndrome from TP53 mutation carriers
by Bougeard, Gaëlle and Renaux-Petel, Mariette and Flaman, Jean-Michel and Charbonnier, Camille and Fermey, Pierre and Belotti, Muriel and Gauthier-Villars, Marion and Stoppa-Lyonnet, Dominique and Consolino, Emilie and Brugières, Laurence and Caron, Olivier and Benusiglio, Patrick R and Bressac-de Paillerets, Brigitte and Bonadona, Valérie and Bonaïti-Pellié, Catherine and Tinat, Julie and Baert-Desurmont, Stéphanie and Frebourg, Thierry
Journal of Clinical Oncology, ISSN 0732-183X, 07/2015, Volume 33, Issue 21, pp. 2345 - 2352
Purpose The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive... 
ONSET BREAST-CANCER | GERMLINE MUTATION | GENETIC INSTABILITY | ONCOLOGY | MUTANT P53 | SURVEILLANCE | PATIENT | CHILDHOOD ADRENOCORTICAL TUMORS | FAMILIAL SYNDROME | MOUSE MODELS | GAIN | France - epidemiology | Genetic Testing | Humans | Genotype | Male | Sequence Analysis, DNA | Tumor Suppressor Protein p53 - genetics | Li-Fraumeni Syndrome - genetics | Phenotype | Adolescent | Age of Onset | Germ-Line Mutation | Adult | Female | Li-Fraumeni Syndrome - epidemiology
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6. Full Text An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer
by Majewski, Ian J and Kluijt, Irma and Cats, Annemieke and Scerri, Thomas S and Jong, Daphne and Kluin, Roelof JC and Hansford, Samantha and Hogervorst, Frans BL and Bosma, Astrid J and Hofland, Ingrid and Winter, Marcel and Huntsman, David and Jonkers, Jos and Bahlo, Melanie and Bernards, René
The Journal of Pathology, ISSN 0022-3417, 03/2013, Volume 229, Issue 4, pp. 621 - 629
Diffuse gastric cancers typically present as late‐stage tumours and, as a result, the 5 year survival rate is poor. Some gastric cancers are hereditary and... 
E‐catenin | diffuse gastric cancer | exome sequencing | α-E-catenin | CELLS | GERMLINE MUTATION | PATHOLOGY | CARRIERS | E-catenin | ONCOLOGY | CDH1 | FAMILIES | TUMOR-SUPPRESSOR | E-CADHERIN GENE | EXPRESSION | CARCINOMA | DELETIONS | Cadherins - metabolism | alpha Catenin - metabolism | Humans | Middle Aged | Molecular Sequence Data | Stomach Neoplasms - metabolism | Male | Stomach Neoplasms - pathology | Exome | Germ-Line Mutation | Female | Cadherins - genetics | Genetic Linkage | Stomach Neoplasms - genetics | Amino Acid Sequence | Genetic Predisposition to Disease | Gene Library | Signal Transduction | Genotype | Sequence Analysis, DNA | Alleles | Polymorphism, Genetic - genetics | Aged | High-Throughput Nucleotide Sequencing | alpha Catenin - genetics | DNA, Neoplasm - genetics | Index Medicus
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7. Full Text Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
by Yaoita, Masako and Niihori, Tetsuya and Mizuno, Seiji and Okamoto, Nobuhiko and Hayashi, Shion and Watanabe, Atsushi and Yokozawa, Masato and Suzumura, Hiroshi and Nakahara, Akihiko and Nakano, Yusuke and Hokosaki, Tatsunori and Ohmori, Ayumi and Sawada, Hirofumi and Migita, Ohsuke and Mima, Aya and Lapunzina, Pablo and Santos-Simarro, Fernando and García-Miñaúr, Sixto and Ogata, Tsutomu and Kawame, Hiroshi and Kurosawa, Kenji and Ohashi, Hirofumi and Inoue, Shin-ichi and Matsubara, Yoichi and Kure, Shigeo and Aoki, Yoko
Human Genetics, ISSN 0340-6717, 2/2016, Volume 135, Issue 2, pp. 209 - 222
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | PTPN11 GENE | PROTEIN | FACIO-CUTANEOUS SYNDROME | SIGNALING PATHWAY | COSTELLO-SYNDROME | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | OF-FUNCTION MUTATIONS | RAF1 MUTATIONS | SOS1 | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - metabolism | ras Proteins - genetics | Exons | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Gene Expression Regulation | SOS1 Protein - metabolism | Child, Preschool | Genetic Association Studies - methods | ras Proteins - metabolism | Infant | Male | Noonan Syndrome - genetics | Chylothorax - genetics | Pleural Effusion - genetics | Heart Defects, Congenital - genetics | Hydrops Fetalis - genetics | Nuchal Translucency Measurement | SOS1 Protein - genetics | Female | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Infant, Newborn | Proto-Oncogene Proteins p21(ras) - metabolism | Genetic research | Genetic aspects | Congenital heart disease | Genetic disorders | Analysis | Noonan syndrome
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8. Full Text Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada
by Risch, Harvey A and McLaughlin, John R and Cole, David E.C and Rosen, Barry and Bradley, Linda and Fan, Isabel and Tang, James and Li, Song and Zhang, Shiyu and Shaw, Patricia A and Narod, Steven A
Journal of the National Cancer Institute, ISSN 0027-8874, 12/2006, Volume 98, Issue 23, pp. 1694 - 1706
Background. BRCA1 and BRCA2 mutations in general populations and in various types of cancers have not been well characterized. We investigated the presence of... 
BREAST-CANCER | SOUTHERN SWEDEN | 6174DELT MUTATION | ONCOLOGY | ASHKENAZI JEWISH CARRIERS | FAMILY-HISTORY DATA | GERMLINE MUTATIONS | SPORADIC OVARIAN-CANCER | 185DELAG MUTATION | CALCULATING PENETRANCE | FOUNDER MUTATIONS | Breast Neoplasms, Male - genetics | Gene Frequency | Humans | Male | Ovarian Neoplasms - epidemiology | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Neoplasms - genetics | Ontario - epidemiology | Genes, BRCA2 | Female | Breast Neoplasms, Male - epidemiology | Genes, BRCA1 | Mutation | Neoplasms - epidemiology | Breast Neoplasms - epidemiology | Cohort Studies | Genetic aspects | Research | Population genetics | Cancer | Genetics | Regression analysis | Clinical outcomes | Risk factors | Ovarian cancer
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9. Full Text Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers
by Lachlan, K L and Lucassen, A M and Bunyan, D and Temple, I K
Journal of Medical Genetics, ISSN 0022-2593, 09/2007, Volume 44, Issue 9, pp. 579 - 585
Background: The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan–Riley–Ruvalcaba syndrome (BRRS), with childhood onset,... 
BREAST-CANCER | ZONANA-SYNDROME | GERMLINE MUTATION | HAMARTOMA SYNDROMES | GENETICS & HEREDITY | LHERMITTE-DUCLOS DISEASE | TUMOR-SUPPRESSOR PTEN | DIAGNOSTIC-CRITERIA | PROTEUS-SYNDROME | PHENOTYPIC FINDINGS | SYNDROME PLEASE STAND | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Age Factors | Humans | Middle Aged | PTEN Phosphohydrolase - physiology | Child, Preschool | Terminology as Topic | Exons - genetics | Genotype | Male | Penetrance | Genetic Heterogeneity | Syndrome | Phenotype | Adolescent | Hamartoma Syndrome, Multiple - classification | Adult | Female | Aged | Mutation | Child | Gene mutations | Causes of | Tumor suppressor genes | Genetic aspects | Research | Risk factors | Hamartoma | Cancer in children | Studies | Consortia | Genotype & phenotype | Thyroid cancer | Surveillance | Age | PTEN | Bannayan‐Riley‐Ruvalcaba syndrome | genotype‐phenotype correlation | Cowden Syndrome | Original | variable expressivity
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10. Full Text Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
by Schubert, Desireé and Bode, Claudia and Kenefeck, Rupert and Hou, Tie Zheng and Wing, James B and Kennedy, Alan and Bulashevska, Alla and Petersen, Britt-Sabina and Schäffer, Alejandro A and Grüning, Björn A and Unger, Susanne and Frede, Natalie and Baumann, Ulrich and Witte, Torsten and Schmidt, Reinhold E and Dueckers, Gregor and Niehues, Tim and Seneviratne, Suranjith and Kanariou, Maria and Speckmann, Carsten and Ehl, Stephan and Rensing-Ehl, Anne and Warnatz, Klaus and Rakhmanov, Mirzokhid and Thimme, Robert and Hasselblatt, Peter and Emmerich, Florian and Cathomen, Toni and Backofen, Rolf and Fisch, Paul and Seidl, Maximilian and May, Annette and Schmitt-Graeff, Annette and Ikemizu, Shinji and Salzer, Ulrich and Franke, Andre and Sakaguchi, Shimon and Walker, Lucy S. K and Sansom, David M and Grimbacher, Bodo
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system
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11. Full Text Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
by Hernández-Ramírez, Laura C and Gabrovska, Plamena and Dénes, Judit and Stals, Karen and Trivellin, Giampaolo and Tilley, Daniel and Ferraù, Francesco and Evanson, Jane and Ellard, Sian and Grossman, Ashley B and Roncaroli, Federico and Gadelha, Mônica R and Korbonits, Márta and Agha, Amar and Akker, Scott A and Aflorei, Elena D and Alföldi, Sándor and Arlt, Wiebke and Atkinson, Brew and Aulinas-Masó, Anna and Aylwin, Simon J and Backeljauw, Philippe F and Badiu, Corin and Baldeweg, Stephanie and Bano, Gul and Barkan, Ariel and Barwell, Julian and Bernal-González, Carmen and Besser, G. Michael and Bevan, John S and Blair, Jo and Bouloux, Pierre and Bradley, Lisa and Buchfelder, Michael and Cakir, Mehtap and Canham, Natalie and Carroll, Paul and Chahal, Harvinder S and Cheetham, Tim and Chentli, Farida and Clayton, Richard N and Cohen, Mark and Cole, Trevor and Courtney, Hamish and Crowne, Elizabeth and Cuthbertson, Daniel and Dal, Jacob and Dalantaeva, Nadezhda and Daousi, Christina and Darzy, Ken and Dattani, Mehul and Davies, Justin H and Davis, Julian and De Castro, Margaret and De Marinis, Laura and Drake, William and Dutta, Pinaki and Dzeranova, Larisa and Edén-Engström, Britt and Eeles, Rosalind and Elfving, Maria and Elston, Marianne and Emmerson, Louise and Fersht, Naomi and Fica, Simona and Fischli, Stefan and Flanagan, Daniel and Fleseriu, Maria and Freda, Pamela U and Friedman, Theodore and Frohman, Lawrence A and Gallego, Patricia and Gevers, Evelien and Gláz, Edit and Goldman, James A and Goldstone, Anthony P and Goth, Miklos and Greenhalgh, Lynn and Grieve, Joan and Guitelman, Mirtha and Gürlek, Alper and Gurnell, Mark and Horvath, Katalin and Howlett, Trevor A and Höybye, Charlotte and Hunter, Steven and Iacovazzo, Donato and Igaz, Peter and Inder, Warrick J and Iwata, Takeo and Izatt, Louise and Jagadeesh, Sujatha and Kaltsas, Gregory and Kaplan, Felicity and Karavitaki, Niki and Kastelan, Darko and Katz, Michelle and Kearney, Tara and Khoo, Bernard and Kiraly-Borri, Cathy and ... and Int FIPA Consortium and International FIPA Consortium
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2015, Volume 100, Issue 9, pp. E1242 - E1254
Context: Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease... 
ACROMEGALIC PATIENTS | SOMATOSTATIN ANALOGS | INTERACTING-PROTEIN GENE | ADENYLYL-CYCLASE | ENDOCRINOLOGY & METABOLISM | GERMLINE MUTATIONS | CLINICAL CHARACTERISTICS | SOMATOTROPH ADENOMAS | LARGE COHORT | TUMORS | ALPHA MUTATIONS | Genetic Testing | Pituitary Neoplasms - diagnosis | Prospective Studies | Adenoma - genetics | Humans | Middle Aged | Child, Preschool | Growth Hormone-Secreting Pituitary Adenoma - genetics | Male | Growth Hormone-Secreting Pituitary Adenoma - diagnosis | Young Adult | Aged, 80 and over | Germ-Line Mutation | Adult | Female | Child | Intracellular Signaling Peptides and Proteins - genetics | Adenoma - diagnosis | Pituitary Neoplasms - genetics | Pituitary Neoplasms - pathology | Adolescent | Adenoma - pathology | Aged | Mutation | Longitudinal Studies | Growth Hormone-Secreting Pituitary Adenoma - pathology | Advances in Genetics | JCEM Online
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