R. Pten-predict and .. , 32 III.1. Constitution, description de la série, et calcul des scores prédictifs de mutation 32 III.1.1. Description phénotypique de la série de patients, p.35

E. Tri-des-variants-par-le-logiciel, 37 III.2.2.1.1. Paramètres de tri choisis, p.38

E. Tri-des-variants-dans-le-logiciel, 38 III.2.3.1.1. Paramètres de tri choisis, p.40

P. Multiplex and A. Gold®, Les produits de PCR ont été purifiés en utilisant le kit ExoProStarTM (GE Healthcare UK). La réaction de séquence a été réalisée en utilisant le kit

C. Genomics, et l'analyse de la séquence a été réalisée sur le séquenceur ABI 3130xl DNA Analyzer® (Life Technologies)

G. M. Blumenthal and P. A. Dennis, PTEN hamartoma tumor syndromes, Les amorces et les conditions de PCR utilisées sont détaillées dans l'annexe 4. Références Bibliographiques 1, pp.1289-1300, 2008.
DOI : 10.1038/ejhg.2008.162

D. J. Marsh, J. B. Kum, and K. L. Lunetta, PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome, Human Molecular Genetics, vol.8, issue.8, pp.1461-1472, 1999.
DOI : 10.1093/hmg/8.8.1461

C. Eng, PTEN: One Gene, Many Syndromes, Human Mutation, vol.80, issue.3, pp.183-198, 2003.
DOI : 10.1002/humu.10257

K. L. Lachlan, A. M. Lucassen, D. Bunyan, and I. K. Temple, 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, Journal of Medical Genetics, vol.44, issue.9, pp.579-585, 2007.
DOI : 10.1136/jmg.2007.049981

E. M. Arch, B. K. Goodman, and R. A. Van-wesep, Deletion of PTEN in a patient with

D. L. Riegert-johnson, Research Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients, 2010.

X. P. Zhou, Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis, Human Molecular Genetics, vol.9, issue.5, pp.765-768, 2000.
DOI : 10.1093/hmg/9.5.765

F. Caux, Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity, European Journal of Human Genetics, vol.52, issue.7, pp.767-773, 2007.
DOI : 10.1038/sj.ejhg.5201823

T. Starink, The Cowden syndrome: a clinical and genetic study in 21 patients, Clinical Genetics, vol.106, issue.3, pp.222-233, 1986.
DOI : 10.1111/j.1399-0004.1986.tb00816.x

M. R. Nelen, H. Kremer, and I. B. Konings, Novel PTEN mutations in patients with Cowden disease: absence of clear genotype???phenotype correlations, European Journal of Human Genetics, vol.7, issue.3, pp.267-273, 1999.
DOI : 10.1038/sj.ejhg.5200289

H. Haibach, T. Burns, and H. Carlson, Multiple Hamartoma Syndrome (Cowden???s Disease) Associated with Renal Cell Carcinoma and Primary Neuroendocrine Carcinoma of the Skin (Merkel Cell Carcinoma), American Journal of Clinical Pathology, vol.97, issue.5, pp.705-712, 1992.
DOI : 10.1093/ajcp/97.5.705

C. Schrager, D. Schneider, and A. Gruener, Clinical and pathological features of breast disease in Cowden's syndrome: An underrecognized syndrome with an increased risk of breast cancer, Human Pathology, vol.29, issue.1, pp.47-53, 1998.
DOI : 10.1016/S0046-8177(98)90389-6

K. M. Zbuk and C. Eng, Cancer phenomics: RET and PTEN as illustrative models, Nature Reviews Cancer, vol.2, issue.1, pp.35-45, 2007.
DOI : 10.1038/nrc2037

S. Gustafson, K. M. Zbuk, C. Scacheri, and C. Eng, Cowden Syndrome, Seminars in Oncology, vol.34, issue.5, pp.428-434, 2007.
DOI : 10.1053/j.seminoncol.2007.07.009

C. Eng, PTEN hamartoma tumor syndrome (PHTS), 2014.

K. L. Lachlan, Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: How to Define Rare Genetic Syndromes, JNCI Journal of the National Cancer Institute, vol.105, issue.21, pp.1595-1597, 2013.
DOI : 10.1093/jnci/djt290

R. Pilarski, Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria, JNCI Journal of the National Cancer Institute, vol.105, issue.21, pp.1607-1616, 2013.
DOI : 10.1093/jnci/djt277

M. Tan and C. Eng, RE: Cowden Syndrome and PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria, JNCI Journal of the National Cancer Institute, vol.106, issue.6, pp.130-130, 2014.
DOI : 10.1093/jnci/dju130

M. R. Nelen, G. W. Padberg, and E. A. Peeters, Localization of the gene for Cowden disease to chromosome 10q22???23, Nature Genetics, vol.53, issue.1, pp.114-116, 1996.
DOI : 10.1016/0092-8674(91)90189-6

C. Eng, Will the real Cowden syndrome please stand up: revised diagnostic criteria, Journal of Medical Genetics, vol.37, issue.11, pp.828-830, 2000.
DOI : 10.1136/jmg.37.11.828

R. Pilarski and C. Eng, Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome, Journal of Medical Genetics, vol.41, issue.5, pp.323-326, 2004.
DOI : 10.1136/jmg.2004.018036

K. Kurose, T. Araki, and T. Matsunaka, Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN Gene, The American Journal of Human Genetics, vol.64, issue.1, pp.308-310, 1999.
DOI : 10.1086/302207

A. Farooq, L. J. Walker, J. Bowling, and R. A. Audisio, Cowden syndrome, Cancer Treatment Reviews, vol.36, issue.8, pp.577-583, 2010.
DOI : 10.1016/j.ctrv.2010.04.002

J. H. Merks, PTEN hamartoma tumour syndrome: variability of an entity, Journal of Medical Genetics, vol.40, issue.10, pp.111-111, 2003.
DOI : 10.1136/jmg.40.10.e111

M. Tan, Lifetime Cancer Risks in Individuals with Germline PTEN Mutations, Clinical Cancer Research, vol.18, issue.2, pp.400-407, 2012.
DOI : 10.1158/1078-0432.CCR-11-2283

V. Bubien, High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome, J. Med

M. H. Nieuwenhuis, Cancer risk and genotype???phenotype correlations in PTEN hamartoma tumor syndrome, Familial Cancer, vol.13, issue.1, pp.57-63, 2014.
DOI : 10.1007/s10689-013-9674-3

X. Zhou, Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults, The American Journal of Human Genetics, vol.73, issue.5, pp.1191-1198, 2003.
DOI : 10.1086/379382

M. G. Butler, Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations, Journal of Medical Genetics, vol.42, issue.4, pp.318-321, 2005.
DOI : 10.1136/jmg.2004.024646

E. A. Varga, M. Pastore, T. Prior, G. E. Herman, and K. L. Mcbride, The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly, Genetics in Medicine, vol.44, issue.2, pp.111-117, 2009.
DOI : 10.1097/GIM.0b013e31818fd762

C. Delnatte, Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes, The American Journal of Human Genetics, vol.78, issue.6
DOI : 10.1086/504301

S. Olschwang, PTEN germ-line mutations in juvenile polyposis coli, Nature Genetics, vol.58, issue.1, pp.12-14, 1998.
DOI : 10.1038/ng0198-12

T. Schwerd, A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome, European Journal of Human Genetics, vol.105, issue.6, 2015.
DOI : 10.1016/S0092-8674(00)81663-3

D. Bonneau and M. Longy, Mutations of the human PTEN gene, Human Mutation, vol.80, issue.2, pp.109-122, 2000.
DOI : 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0

F. B. Furnari, H. Lin, H. S. Huang, and W. K. Cavenee, Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domain, Proc. Natl. Acad. Sci. 94, pp.12479-12484, 1997.
DOI : 10.1073/pnas.94.23.12479

X. Zhou, Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway, The American Journal of Human Genetics, vol.73, issue.2
DOI : 10.1086/377109

R. E. Teresi, K. M. Zbuk, M. G. Pezzolesi, K. A. Waite, and C. Eng, Cowden Syndrome???Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation, The American Journal of Human Genetics, vol.81, issue.4, pp.756-767, 2007.
DOI : 10.1086/521051

L. Salmena, A. Carracedo, and P. P. Pandolfi, Tenets of PTEN Tumor Suppression, Cell, vol.133, issue.3, pp.403-414, 2008.
DOI : 10.1016/j.cell.2008.04.013

D. J. Marsh, Allelic imbalance, including deletion ofPTEN/MMAC1, at the Cowden disease locus on 10q22-23, in hamartomas from patients with cowden syndrome and germlinePTEN mutation, Genes, Chromosomes and Cancer, vol.7, issue.1, pp.61-69, 1998.
DOI : 10.1002/(SICI)1098-2264(199801)21:1<61::AID-GCC8>3.0.CO;2-6

E. D. Lynch and E. A. Ostermeyer, Inherited Mutations in PTEN That Are Associated with Breast Cancer

V. Bubien, Etude des événements génétiques somatiques dans les lésions bénignes et malignes de la maladie de Cowden, 2010.

D. J. Marsh, V. Coulon, and K. L. Lunetta, Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation, Human Molecular Genetics, vol.7, issue.3
DOI : 10.1093/hmg/7.3.507

M. Tan, A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands, The American Journal of Human Genetics, vol.88, issue.1, pp.42-56, 2011.
DOI : 10.1016/j.ajhg.2010.11.013

J. Mester and C. Eng, Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome, Journal of Surgical Oncology, vol.22, issue.1, pp.125-130, 2015.
DOI : 10.1002/jso.23735

A. Gammon, K. Jasperson, R. Pilarski, T. Prior, and S. Kuwada, mosaicism with features of Cowden syndrome, Clinical Genetics, vol.1, issue.6, pp.593-595, 2013.
DOI : 10.1111/cge.12078

S. Gourdon, Exploration génomique exhaustive du gène PTEN par séquençage de nouvelle génération dans des familles atteintes de maladie de Cowden sans mutation identifiée en phase codante

C. C. Pritchard, A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing, Genetics in Medicine, vol.15, issue.12
DOI : 10.1038/gim.2012.51

M. C. Hollander, G. M. Blumenthal, and P. A. Dennis, PTEN loss in the continuum of common cancers, rare syndromes and mouse models, Nature Reviews Cancer, vol.9, issue.4, pp.289-301, 2011.
DOI : 10.1038/nrc3037

B. Marty, Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells, Breast Cancer Research, vol.22, issue.6, p.101, 2008.
DOI : 10.1093/bioinformatics/btl359

J. Lee, Crystal Structure of the PTEN Tumor Suppressor, Cell, vol.99, issue.3, pp.323-334, 1999.
DOI : 10.1016/S0092-8674(00)81663-3

K. A. Waite and C. Eng, Protean PTEN: Form and Function, The American Journal of Human Genetics, vol.70, issue.4, pp.829-844, 2002.
DOI : 10.1086/340026

M. S. Song, L. Salmena, and P. P. Pandolfi, The functions and regulation of the PTEN tumour suppressor, Nature Reviews Molecular Cell Biology, vol.279
DOI : 10.1038/nrm3330

F. B. Furnari, H. S. Huang, and W. K. Cavenee, The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells, Cancer Res, vol.58, pp.5002-5008, 1998.

M. P. Myers and N. K. Tonks, PTEN: Sometimes Taking It Off Can Be Better than Putting It On, The American Journal of Human Genetics, vol.61, issue.6, p.1234, 1997.
DOI : 10.1086/301659

N. R. Leslie, H. Maccario, L. Spinelli, and L. Davidson, The significance of PTEN's protein phosphatase activity, Advances in Enzyme Regulation, vol.49, issue.1
DOI : 10.1016/j.advenzreg.2008.12.002

L. Weng, W. M. Smith, J. L. Brown, and C. Eng, PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model, Human Molecular Genetics, vol.10, issue.6, pp.605-616, 2001.
DOI : 10.1093/hmg/10.6.605

Z. Zhang, PTEN regulates PLK1 and controls chromosomal stability during cell division, Cell Cycle, vol.59, issue.1, pp.0-00, 2016.
DOI : 10.1016/j.cell.2008.03.025

J. Feng, PTEN Controls the DNA Replication Process through MCM2 in Response to Replicative Stress, Cell Reports, vol.13, issue.7, pp.1295-1303, 2015.
DOI : 10.1016/j.celrep.2015.10.016

W. H. Shen, Essential Role for Nuclear PTEN in Maintaining Chromosomal Integrity, Cell, vol.128, issue.1, pp.157-170, 2007.
DOI : 10.1016/j.cell.2006.11.042

Z. H. Chen, PTEN Interacts with Histone H1 and Controls Chromatin Condensation, Cell Reports, vol.8, issue.6, 2003.
DOI : 10.1016/j.celrep.2014.08.008

S. M. Planchon, K. A. Waite, and C. Eng, The nuclear affairs of PTEN, Journal of Cell Science, vol.121, issue.3, pp.249-253, 2008.
DOI : 10.1242/jcs.022459

M. Milella, PTEN: Multiple Functions in Human Malignant Tumors, Frontiers in Oncology, vol.23, issue.5, 2015.
DOI : 10.1517/13543776.2013.768985

L. Spinelli, F. M. Black, J. N. Berg, B. J. Eickholt, and N. R. Leslie, Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes, Journal of Medical Genetics, vol.64, issue.2, pp.128-134, 2015.
DOI : 10.1136/jmedgenet-2014-102803

H. Wang, Allele-specific tumor spectrum in Pten knockin mice, Proc. Natl. Acad. Sci, pp.5142-5147, 2010.
DOI : 10.1073/pnas.0912524107

N. R. Leslie and M. Longy, Inherited PTEN mutations and the prediction of phenotype, Seminars in Cell & Developmental Biology, vol.52, pp.30-38, 2016.
DOI : 10.1016/j.semcdb.2016.01.030

L. Weng and J. Brown, PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways, Human Molecular Genetics, vol.10, issue.3, pp.237-242, 2001.
DOI : 10.1093/hmg/10.3.237

M. J. Lindhurst, A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome, N. Engl. J

K. C. Kurek, Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome, The American Journal of Human Genetics, vol.90, issue.6
DOI : 10.1016/j.ajhg.2012.05.006

K. M. Keppler-noreuil, -related overgrowth spectrum, American Journal of Medical Genetics Part A, vol.27, issue.7, pp.1713-1733, 2014.
DOI : 10.1002/ajmg.a.36552

URL : https://hal.archives-ouvertes.fr/hal-00306959

M. S. Orloff, Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes, The American Journal of Human Genetics, vol.92, issue.1
DOI : 10.1016/j.ajhg.2012.10.021

S. Knuutila and Y. Zhu, DNA Copy Number Amplifications in Human Neoplasms: Review of Comparative Genomic Hybridization Studies, Am. J. Pathol, vol.152, pp.1107-1123, 1998.

J. W. Lee, PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas, Oncogene, vol.24, issue.8, pp.1477-1480, 2005.
DOI : 10.1038/sj.onc.1208304

L. Shayesteh, PIK3CA is implicated as an oncogene in ovarian cancer, Nature Genetics, vol.21, issue.1, pp.99-102, 1999.
DOI : 10.1038/5042

. Kinase, Akt and Mitogen-Activated Protein Kinase Pathways in Anaplastic and Follicular Thyroid Cancers, J

Y. Samuels, High Frequency of Mutations of the PIK3CA Gene in Human Cancers, Science, vol.304, issue.5670, pp.554-554, 2004.
DOI : 10.1126/science.1096502

M. Gymnopoulos and M. Elsliger, Rare cancer-specific mutations in PIK3CA show gain of function, Proc
DOI : 10.1073/pnas.0701005104

T. F. Franke, D. R. Kaplan, L. C. Cantley, and A. Toker, Direct Regulation of the Akt Proto-Oncogene Product by Phosphatidylinositol-3,4-bisphosphate, Science, vol.275, issue.5300, pp.665-668, 1997.
DOI : 10.1126/science.275.5300.665

J. D. Carpten, A transforming mutation in the pleckstrin homology domain of AKT1 in cancer, Nature, vol.1, issue.7152, pp.439-444, 2007.
DOI : 10.1038/nature05933

R. Happle, Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin, Journal of the American Academy of Dermatology, vol.16, issue.4, pp.899-906, 1987.
DOI : 10.1016/S0190-9622(87)80249-9

H. Mahdi, alterations in endometrial cancer patients with cowden and cowden-like syndromes: An international, multicenter, prospective study: Cowden Syndrome-Related Endometrial Cancer, 2014.

Y. Ni, Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes, The American Journal of Human Genetics, vol.83, issue.2, pp.261-268, 2008.
DOI : 10.1016/j.ajhg.2008.07.011

J. Ngeow, Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by Germline PTEN , SDH , or KLLN Alterations, J

J. Bayley, Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome, The American Journal of Human Genetics, vol.88, issue.5, p.674, 2011.
DOI : 10.1016/j.ajhg.2010.12.016

W. Yu, X. He, Y. Ni, J. Ngeow, and C. Eng, Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation, Human Molecular Genetics, vol.24, issue.1, pp.142-153, 2015.
DOI : 10.1093/hmg/ddu425

Y. Ni, Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53, Human Molecular Genetics, vol.21, issue.2, pp.300-310, 2012.
DOI : 10.1093/hmg/ddr459

K. L. Bennett, Germline Epigenetic Regulation of <emph type="ital">KILLIN</emph> in Cowden and Cowden-like Syndrome, JAMA, vol.304, issue.24, p.2724, 2010.
DOI : 10.1001/jama.2010.1877

. Kconfab, Analysis of KLLN as a high-penetrance breast cancer predisposition gene, Breast Cancer Research and Treatment, vol.47, issue.11, pp.543-547, 2012.
DOI : 10.1007/s10549-012-2088-3

E. A. Nizialek, J. L. Mester, V. K. Dhiman, D. J. Smiraglia, and C. Eng, KLLN epigenotype???phenotype associations in Cowden syndrome, European Journal of Human Genetics, vol.1, issue.11, 2015.
DOI : 10.1038/ejhg.2015.8

L. Yehia, Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer, The American Journal of Human Genetics, vol.97, issue.5, pp.661-676, 2015.
DOI : 10.1016/j.ajhg.2015.10.001

N. Jones, Comprehensive analysis of PTEN status in breast carcinomas, International Journal of Cancer, vol.22, issue.2
DOI : 10.1002/ijc.28021

R. Priya and H. Rajasimha, Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery, Methods Mol. Biol, vol.884, pp.335-351, 2012.
DOI : 10.1007/978-1-61779-848-1_24

M. N. Bainbridge, Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities, Genome Biology, vol.12, issue.7, p.68, 2011.
DOI : 10.1093/bioinformatics/btp324

A. Gnirke, Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing, Nature Biotechnology, vol.13, issue.2, pp.182-189, 2009.
DOI : 10.1038/nbt.1523

F. Sanger and A. Coulson, A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase, Journal of Molecular Biology, vol.94, issue.3, pp.441-448, 1975.
DOI : 10.1016/0022-2836(75)90213-2

F. Sanger, S. Nicklen, and A. Coulson, DNA sequencing with chain-terminating inhibitors, Proc. Natl. Acad
DOI : 10.1073/pnas.74.12.5463

R. Pilarski, J. A. Stephens, R. Noss, J. L. Fisher, and T. W. Prior, Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features, Journal of Medical Genetics, vol.48, issue.8, pp.505-512, 2011.
DOI : 10.1136/jmg.2011.088807

J. Weber, R. Looten, C. Houdayer, D. Stoppa-lyonnet, and J. Viovy, Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition geneBRCA2, ELECTROPHORESIS, vol.23, issue.8, pp.1444-1452, 2006.
DOI : 10.1002/elps.200500797

C. Houdayer and V. Moncoutier, Enhanced Mismatch Mutation Analysis: Simultaneous Detection of Point Mutations and Large Scale Rearrangements by Capillary Electrophoresis, Application to BRCA1 and BRCA2
DOI : 10.1007/978-1-60761-759-4_9

F. Casilli, Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments, Human Mutation, vol.33, issue.3, pp.218-226, 2002.
DOI : 10.1002/humu.10108

M. A. Batzer, Standardized nomenclature for Alu repeats, Journal of Molecular Evolution, vol.22, issue.1, pp.3-6, 1996.
DOI : 10.1007/BF00163204

J. Chen, C. Férec, and D. N. Cooper, Mechanism of Alu integration into the human genome, Genomic Medicine, vol.15, issue.1-2
DOI : 10.1007/s11568-007-9002-9

J. Jurka, Repbase Update: a database and an electronic journal of repetitive elements, Trends in Genetics, vol.16, issue.9
DOI : 10.1016/S0168-9525(00)02093-X

J. Jurka, Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons, Proceedings of the National Academy of Sciences, vol.94, issue.5
DOI : 10.1073/pnas.94.5.1872

G. Mirzaa, PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution, JCI Insight, vol.1, issue.9, 2016.
DOI : 10.1172/jci.insight.87623DS1

O. Neill, S. M. Peters, J. A. Vogel, V. G. Feingold, E. Rubinstein et al., Referral to cancer genetic counseling: Are there stages of readiness?, Am. J. Med. Genet. C Semin. Med. Genet, vol.142, pp.221-231, 2006.

D. C. Samuels, Finding the lost treasures in exome sequencing data, Trends in Genetics, vol.29, issue.10, pp.593-599, 2013.
DOI : 10.1016/j.tig.2013.07.006

J. Chen, C. Férec, and D. N. Cooper, LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption, Journal of Biomedicine and Biotechnology, vol.10, issue.23, pp.1-9, 2006.
DOI : 10.1155/JBB/2006/56182

K. Wimmer, T. Callens, A. Wernstedt, and L. Messiaen, The NF1 Gene Contains Hotspots for L1

D. Brakeleer, S. De-grève, J. Lissens, W. Teugels, and E. , Example, Human Mutation, vol.7, issue.11, pp.785-791, 2013.
DOI : 10.1002/humu.22297

E. Helman, Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing, Genome Research, vol.24, issue.7, pp.1053-1063, 2014.
DOI : 10.1101/gr.163659.113

R. Cordaux and M. A. Batzer, The impact of retrotransposons on human genome evolution, Nature Reviews Genetics, vol.616, issue.10
DOI : 10.1038/nrg2640

URL : https://hal.archives-ouvertes.fr/hal-00419189

C. C. Leslie, : physiological function and role in disease, Journal of Lipid Research, vol.56, issue.8, p.57588, 2015.
DOI : 10.1194/jlr.R057588

G. Tosato, M. Segarra, and O. Salvucci, Cytosolic Phospholipase A2?? and Cancer: A Role in Tumor Angiogenesis, JNCI Journal of the National Cancer Institute, vol.102, issue.18
DOI : 10.1093/jnci/djq324

A. G. Linkous, E. M. Yazlovitskaya, and D. E. Hallahan, Cytosolic Phospholipase A2 and Lysophospholipids in Tumor Angiogenesis, JNCI Journal of the National Cancer Institute, vol.102, issue.18, pp.1398-1412, 2010.
DOI : 10.1093/jnci/djq290