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Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.
- Published in:
- Familial Cancer, 2024, v. 23, n. 4, p. 447, doi. 10.1007/s10689-024-00403-1
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- Publication type:
- Article
Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 12, p. 1, doi. 10.1002/pbc.31302
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- Publication type:
- Article
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
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- Cancers, 2019, v. 11, n. 8, p. 1081, doi. 10.3390/cancers11081081
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- Publication type:
- Article
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01506
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- Publication type:
- Article
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
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- Clinical Genetics, 2019, v. 96, n. 6, p. 579, doi. 10.1111/cge.13629
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- Publication type:
- Article
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00603-z
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- Publication type:
- Article
Genetic counselling legislation and practice in cancer in EU Member States.
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- European Journal of Public Health, 2024, v. 34, n. 4, p. 666, doi. 10.1093/eurpub/ckae093
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- Publication type:
- Article
First report of medulloblastoma in a patient with MUTYH‐associated polyposis.
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- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12929
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- Publication type:
- Article
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
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- 2012
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- Publication type:
- journal article
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
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- Journal of Human Genetics, 2012, v. 57, n. 11, p. 709, doi. 10.1038/jhg.2012.99
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- Publication type:
- Article
Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 58, doi. 10.1038/jhg.2010.144
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- Publication type:
- Article
Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2012, v. 19, n. 3, p. 809, doi. 10.1245/s10434-011-2014-7
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- Publication type:
- Article
Preimplantation genetic testing in patients with genetic susceptibility to cancer.
- Published in:
- Familial Cancer, 2023, v. 22, n. 1, p. 119, doi. 10.1007/s10689-022-00293-1
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- Publication type:
- Article
Desmoid tumour in familial adenomatous polyposis patients: responses to treatments.
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- Familial Cancer, 2015, v. 14, n. 1, p. 31, doi. 10.1007/s10689-014-9760-1
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- Publication type:
- Article
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
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- Familial Cancer, 2014, v. 13, n. 1, p. 57, doi. 10.1007/s10689-013-9674-3
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- Publication type:
- Article
Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.
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- Familial Cancer, 2013, v. 12, n. 1, p. 27, doi. 10.1007/s10689-012-9568-9
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- Publication type:
- Article
French experts report on MUTYH-associated polyposis (MAP).
- Published in:
- Familial Cancer, 2012, v. 11, n. 3, p. 321, doi. 10.1007/s10689-012-9511-0
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- Publication type:
- Article
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
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- Familial Cancer, 2010, v. 9, n. 4, p. 589, doi. 10.1007/s10689-010-9367-0
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- Publication type:
- Article
Leiden open variation database of the MUTYH gene.
- Published in:
- 2010
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- Publication type:
- Other
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
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- 2021
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- Publication type:
- journal article
The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors.
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- 2018
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- Publication type:
- journal article
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome.
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- JAMA: Journal of the American Medical Association, 2011, v. 305, n. 22, p. 2304, doi. 10.1001/jama.2011.743
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- Publication type:
- Article
La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l'égide de l'Institut National du Cancer (INCa).
- Published in:
- Hépato-Gastro & Oncologie Digestive, 2020, v. 27, n. 4, p. 396, doi. 10.1684/hpg.2020.1944
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- Publication type:
- Article
Du nouveau dans le champ des polyposes adénomateuses colorectales : synthèse des données disponibles en 2020.
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- Hépato-Gastro & Oncologie Digestive, 2020, v. 27, n. 4, p. 386, doi. 10.1684/hpg.2020.1945
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- Publication type:
- Article
Les formes héréditaires des cancers gastriques – Synthèse des données disponibles en 2018.
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- Hépato-Gastro & Oncologie Digestive, 2018, v. 25, n. 9, p. 887, doi. 10.1684/hpg.2018.1676
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- Publication type:
- Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
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- Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
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- Publication type:
- Article
The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms.
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- International Journal of Cancer, 2009, v. 125, n. 10, p. 2360, doi. 10.1002/ijc.24681
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- Publication type:
- Article
Metachronous colorectal cancer risk in Lynch syndrome patients—should the endoscopic surveillance be more intensive?
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- International Journal of Colorectal Disease, 2018, v. 33, n. 6, p. 703, doi. 10.1007/s00384-018-3004-z
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- Publication type:
- Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Publication type:
- Article
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 107, doi. 10.1111/cge.14327
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- Publication type:
- Article