Works matching IS 13899600 AND DT 2017 AND VI 16
Results: 81
International society for gastrointestinal hereditary tumours-InSiGHT.
- Published in:
- Familial Cancer, 2017, v. 16, p. 1, doi. 10.1007/s10689-017-0026-6
- Publication type:
- Article
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 491, doi. 10.1007/s10689-017-9975-z
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- Publication type:
- Article
High-risk individuals' perceptions of reproductive genetic testing for CDH1 mutations.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 531, doi. 10.1007/s10689-017-9976-y
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- Publication type:
- Article
Improved quality of risk-reducing salpingo-oophorectomy in Australasian women at high risk of pelvic serous cancer.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 461, doi. 10.1007/s10689-017-9977-x
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- Publication type:
- Article
Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 471, doi. 10.1007/s10689-017-9978-9
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- Publication type:
- Article
Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 537, doi. 10.1007/s10689-017-9979-8
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- Publication type:
- Article
Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 545, doi. 10.1007/s10689-017-9980-2
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- Publication type:
- Article
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 509, doi. 10.1007/s10689-017-9986-9
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- Publication type:
- Article
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 551, doi. 10.1007/s10689-017-9982-0
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- Publication type:
- Article
A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 555, doi. 10.1007/s10689-017-9983-z
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- Publication type:
- Article
A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 561, doi. 10.1007/s10689-017-9984-y
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- Publication type:
- Article
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 477, doi. 10.1007/s10689-017-9985-x
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- Publication type:
- Article
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 501, doi. 10.1007/s10689-017-9981-1
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- Publication type:
- Article
All in the family? Communication of cancer survivors with their families.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 597, doi. 10.1007/s10689-017-9987-8
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- Publication type:
- Article
Importance of updating family cancer history in childhood cancer survivors.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 611, doi. 10.1007/s10689-017-9989-6
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- Publication type:
- Article
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 567, doi. 10.1007/s10689-017-9990-0
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- Publication type:
- Article
Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 577, doi. 10.1007/s10689-017-9991-z
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- Publication type:
- Article
Genetic polymorphisms of NFκB1-94ins/delATTG and NFκBIA-881A/G genes in Egyptian patients with colorectal cancer.
- Published in:
- Familial Cancer, 2017, v. 16, n. 4, p. 517, doi. 10.1007/s10689-017-9992-y
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- Publication type:
- Article
Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Placing negative multi-gene panel results into clinical context.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Detection of false positive mutations in BRCA gene by next generation sequencing.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 311, doi. 10.1007/s10689-016-9955-8
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- Publication type:
- Article
Outcomes of retesting BRCA negative patients using multigene panels.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 319, doi. 10.1007/s10689-016-9956-7
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- Publication type:
- Article
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 395, doi. 10.1007/s10689-016-9957-6
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- Publication type:
- Article
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 401, doi. 10.1007/s10689-016-9958-5
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- Publication type:
- Article
ATM mutations for surgeons.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 407, doi. 10.1007/s10689-016-9959-4
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- Publication type:
- Article
Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 357, doi. 10.1007/s10689-016-9960-y
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- Publication type:
- Article
Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 411, doi. 10.1007/s10689-016-9961-x
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- Publication type:
- Article
Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 329, doi. 10.1007/s10689-016-9962-9
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- Publication type:
- Article
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 417, doi. 10.1007/s10689-016-9963-8
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- Publication type:
- Article
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 423, doi. 10.1007/s10689-016-9964-7
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- Publication type:
- Article
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 433, doi. 10.1007/s10689-017-9965-1
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- Publication type:
- Article
Gastric tumours in FAP.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 363, doi. 10.1007/s10689-017-9966-0
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- Publication type:
- Article
Patients with negative multi-gene panel testing: a back to the future paradox?
- Published in:
- 2017
- By:
- Publication type:
- Letter
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 441, doi. 10.1007/s10689-017-9968-y
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- Publication type:
- Article
The association between prognosis of breast cancer and first-degree family history of breast or ovarian cancer: a systematic review and meta-analysis.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 339, doi. 10.1007/s10689-017-9969-x
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- Publication type:
- Article
Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 447, doi. 10.1007/s10689-017-9970-4
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- Publication type:
- Article
Gastric cancer in FAP: a concerning rise in incidence.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 371, doi. 10.1007/s10689-017-9971-3
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- Publication type:
- Article
Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 377, doi. 10.1007/s10689-017-9972-2
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- Publication type:
- Article
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 351, doi. 10.1007/s10689-017-9973-1
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- Publication type:
- Article
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.
- Published in:
- Familial Cancer, 2017, v. 16, n. 3, p. 389, doi. 10.1007/s10689-016-9954-9
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- Publication type:
- Article
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 243, doi. 10.1007/s10689-016-9935-z
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- Publication type:
- Article
Cystic parathyroid glands in MEN1: A rare entity?
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 249, doi. 10.1007/s10689-016-9936-y
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- Publication type:
- Article
Pain evaluation during gynaecological surveillance in women with Lynch syndrome.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 205, doi. 10.1007/s10689-016-9937-x
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- Publication type:
- Article
Attenuated polyposis of the large bowel: a morphologic and molecular approach.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 211, doi. 10.1007/s10689-016-9938-9
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- Publication type:
- Article
Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 221, doi. 10.1007/s10689-016-9945-x
- By:
- Publication type:
- Article
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma ( CDKN2A) in Norway.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 257, doi. 10.1007/s10689-016-9939-8
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- Publication type:
- Article
A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 267, doi. 10.1007/s10689-016-9941-1
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- Publication type:
- Article
Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 173, doi. 10.1007/s10689-016-9942-0
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- Publication type:
- Article
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 271, doi. 10.1007/s10689-016-9943-z
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- Publication type:
- Article