Search Results - "Mallabar-Rimmer B"

Risk Factors in Sporadic Early-Onset Colorectal Cancer, Current Evidence and Emerging Insights: A Systematic Review.

Authors: Maddula, Meghana Cohen, Jordan E. Kumarasinghe, Dulitha et al.

Source: Cancers. May2026, Vol. 18 Issue 10, p1515. 30p.

Colorectal cancer risk stratification using a polygenic risk score in symptomatic primary care patients-a UK Biobank retrospective cohort study.

Authors: Mallabar-Rimmer B Merriel SWD Webster AP et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1456-1464. Date of Electronic Publication: 2024 Aug 01.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Influence of family history on penetrance of hereditary cancers in a population setting.

Authors: Jackson L Weedon MN Green HD et al.

Source: EClinicalMedicine [EClinicalMedicine] 2023 Sep 14; Vol. 64, pp. 102159. Date of Electronic Publication: 2023 Sep 14 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: The Lancet Country of Publication: England NLM ID: 101733727 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5370 (Electronic) Linking ISSN: 25895370 NLM ISO Abbreviation: EClinicalMedicine Subsets: PubMed not MEDLINE

Association between Family History of Breast Cancer and Breast Density in Saudi Premenopausal Women Participating in Mammography Screening.

Authors: Kanbayti, Ibrahem Hussain Alzahrani, Mayada A. Yeslam, Yara O. et al.

Source: Clinics & Practice. Feb2024, Vol. 14 Issue 1, p164-172. 9p.

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Authors: Helbling-Leclerc, Anne Falampin, Marie Heddar, Abdelkader et al.

Source: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12460. 19p.

A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.

Authors: Thompson, Deborah J. Wells, Daniel Selzam, Saskia et al.

Source: PLoS ONE. 9/18/2024, Vol. 19 Issue 9, p1-24. 24p.

Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

Authors: Fasham J McPhater A Whittington R et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 18. Date of Electronic Publication: 2026 May 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Understanding the Role of Genetics in Tumour and Cancer Biology.

Authors: Asiri, Abdulaziz Al Ali, Amer Abu-Alghayth, Mohammed H.

Source: Advancements in Life Sciences. Feb2025, Vol. 12 Issue 1, p35-48. 14p.

Revisiting penetrance in an era of genomic screening.

Authors: Jackson L Wright CF

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr 21. Date of Electronic Publication: 2026 Apr 21.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

A Haplotype GWAS in Syndromic Familial Colorectal Cancer.

Authors: Vermani, Litika Winnberg, Johanna Samola Liu, Wen et al.

Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p817. 13p.

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Authors: Villy MC Drouet Y Larcher L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct 03. Date of Electronic Publication: 2025 Oct 03.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

Authors: Kerr SM Klaric L Muckian MD et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1624-1631. Date of Electronic Publication: 2024 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Returning of individual genetic findings to biobank participants: a mixed methods study results in Lithuania.

Authors: Lekstutienė J Žiliukaitė R Jakubauskienė M et al.

Source: BMC medical ethics [BMC Med Ethics] 2025 Jul 04; Vol. 26 (1), pp. 86. Date of Electronic Publication: 2025 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088680 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6939 (Electronic) Linking ISSN: 14726939 NLM ISO Abbreviation: BMC Med Ethics Subsets: MEDLINE

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.

Authors: Varde A McVeigh T Cuthill V et al.

Source: Familial cancer [Fam Cancer] 2025 Mar 06; Vol. 24 (1), pp. 26. Date of Electronic Publication: 2025 Mar 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Effect of a polygenic risk score in patients with late-onset, early-onset, familial, or hereditary colorectal cancer.

Authors: Klinkhammer H Spier I Perne C et al.

Source: JNCI cancer spectrum [JNCI Cancer Spectr] 2026 May 09; Vol. 10 (3).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101721827 Publication Model: Print Cited Medium: Internet ISSN: 2515-5091 (Electronic) Linking ISSN: 25155091 NLM ISO Abbreviation: JNCI Cancer Spectr Subsets: MEDLINE

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

Authors: Freeman K Dinnes J Shinkins B et al.

Source: Health technology assessment (Winchester, England) [Health Technol Assess] 2025 Dec; Vol. 29 (65), pp. 1-172.

Publication Type: Journal Article; Systematic Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: NIHR Journals Library Country of Publication: England NLM ID: 9706284 Publication Model: Print Cited Medium: Internet ISSN: 2046-4924 (Electronic) Linking ISSN: 13665278 NLM ISO Abbreviation: Health Technol Assess Subsets: MEDLINE

Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.

Authors: Manna EDF Serrano D Cazzaniga L et al.

Source: Genes [Genes (Basel)] 2025 Jan 13; Vol. 16 (1). Date of Electronic Publication: 2025 Jan 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE