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1993 1
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29 results

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Page 1
Fanconi Anemia.
Mehta PA, Ebens CL. Mehta PA, et al. 2002 Feb 14 [updated 2026 Jan 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2002 Feb 14 [updated 2026 Jan 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301575 Free Books & Documents. Review.
If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Male sibs who inherit the pathogenic variant will be affected. Female sibs who inherit the pathogenic variant …
If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50% …
Risk-reducing mastectomy.
Edlich RF, Winters KL, Faulkner BC, Lin KY. Edlich RF, et al. J Long Term Eff Med Implants. 2006;16(4):301-14. doi: 10.1615/jlongtermeffmedimplants.v16.i4.40. J Long Term Eff Med Implants. 2006. PMID: 17073572 Review.
Breast cancer is a malignant proliferation of epithelial cells lining the ducts or lobules of the breast. Excluding skin cancer, breast cancer is the most common cancer in women. Only lung cancer accounts for more cancer deaths in women. ...First, risk-reducing mast …
Breast cancer is a malignant proliferation of epithelial cells lining the ducts or lobules of the breast. Excluding skin cancer …
Skin cancer risk in BRCA1/2 mutation carriers.
Gumaste PV, Penn LA, Cymerman RM, Kirchhoff T, Polsky D, McLellan B. Gumaste PV, et al. Br J Dermatol. 2015 Jun;172(6):1498-1506. doi: 10.1111/bjd.13626. Epub 2015 Apr 29. Br J Dermatol. 2015. PMID: 25524463 Free PMC article. Review.
Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. ...Nonetheless, suspected BRCA1/2 mutation carriers shou …
Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concer …
Micronuclei and upper body cancers (head, neck, breast cancers) a systematic review and meta-analysis.
Bolognesi C, Bruzzone M, Ceppi M, Marcon F. Bolognesi C, et al. Mutat Res Rev Mutat Res. 2021 Jan-Jun;787:108358. doi: 10.1016/j.mrrev.2020.108358. Epub 2020 Nov 28. Mutat Res Rev Mutat Res. 2021. PMID: 34083052
A systematic review and a meta-analysis were performed on 19 studies on head and neck cancer (HNC) and 21 studies on breast cancer (BC) to evaluate the application of micronucleus (MN) assay as a predictive and prognostic test for cancer risk …
A systematic review and a meta-analysis were performed on 19 studies on head and neck cancer (HNC) and 21 studie …
Polymorphisms in DNA repair genes and associations with cancer risk.
Goode EL, Ulrich CM, Potter JD. Goode EL, et al. Cancer Epidemiol Biomarkers Prev. 2002 Dec;11(12):1513-30. Cancer Epidemiol Biomarkers Prev. 2002. PMID: 12496039 Review.
Thirty studies of polymorphisms in OGG1, XRCC1, ERCC1, XPC, XPD, XPF, BRCA2, and XRCC3 were identified in the April 30, 2002 MEDLINE database (National Center for Biotechnology Information. ...These studies focused on adult glioma, bladder cancer, breast canc …
Thirty studies of polymorphisms in OGG1, XRCC1, ERCC1, XPC, XPD, XPF, BRCA2, and XRCC3 were identified in the April 30, 2002 MEDLINE …
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ, Choueiri TK, Curran C, Berchuck JE, Harshman LC, Nuzzo PV, Chanza NM, Van Allen E, Esplin ED, Yang S, Callis T, Garber JE, Rana HQ, Sonpavde G. Nassar AH, et al. Genet Med. 2020 Apr;22(4):709-718. doi: 10.1038/s41436-019-0720-x. Epub 2019 Dec 17. Genet Med. 2020. PMID: 31844177 Free PMC article.
Case-control enrichment analysis was performed to screen for pathogenic variant enrichment in 17 DNA repair genes in 1038 UC patients relative to cancer-free individuals. ...MLH1 and MSH2 were validated as UC risk genes while ATM and BRCA2 were highlighted as …
Case-control enrichment analysis was performed to screen for pathogenic variant enrichment in 17 DNA repair genes in 1038 UC p …
Exome Sequencing for Head and Neck Cancer Predisposition Genes.
Yu Y, Feng B, Chang CP, Bell R, Wood A, Sturgis E, Li G, Olshan A, Chen CJ, Lou PJ, Hsu WL, Cessna M, Witt B, Neklason D, Hashibe M, Huff C, Tavtigian S. Yu Y, et al. medRxiv [Preprint]. 2025 Jan 22:2025.01.20.25320626. doi: 10.1101/2025.01.20.25320626. medRxiv. 2025. PMID: 39973998 Free PMC article. Preprint.
INTRODUCTION: While common variants have been studied for head and neck cancer (HNC) risk and exome sequencing has been conducted for head and neck tumor tissue samples, large-scale studies of exome sequencing on head and neck c …
INTRODUCTION: While common variants have been studied for head and neck cancer (HNC) risk and exome sequencing h …
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A, Wei J, Shi Z, Rifkin AS, Zheng SL, Glaser AP, Kearns JT, Helfand BT, Xu J. Mian A, et al. BJUI Compass. 2022 Dec 7;4(2):156-163. doi: 10.1002/bco2.206. eCollection 2023 Mar. BJUI Compass. 2022. PMID: 36816149 Free PMC article. Review.
OBJECTIVES: To evaluate which of previously reported monogenic genes are associated with increased bladder cancer risk, we reviewed published papers on associations of genes and bladder cancer risk and performed a confirmation study of th …
OBJECTIVES: To evaluate which of previously reported monogenic genes are associated with increased bladder cancer risk, …
BRCA1 and BRCA2 pathogenic variants increase the risk of four less common cancer types.
Sasagawa H, Endo M, Iwasaki Y, Usui Y, Koyanagi YN, Innella G, Hadler J, Parsons MT, Numakura K, Kamatani Y, Murakami Y, Matsuo K, Matsuda K, Spurdle AB, Habuchi T, Momozawa Y. Sasagawa H, et al. ESMO Open. 2026 Apr;11(4):106900. doi: 10.1016/j.esmoop.2026.106900. Epub 2026 Apr 8. ESMO Open. 2026. PMID: 41950573 Free PMC article.
BACKGROUND: Previous family-based and case-control studies have expanded the cancer risk profile associated with pathogenic variants in BRCA1 and BRCA2, providing the potential for expanding personalized medicine. ...For bladder cancer, t …
BACKGROUND: Previous family-based and case-control studies have expanded the cancer risk profile associated with pathogenic va …
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
van der Tuin K, Ruano D, Knijnenburg J, van der Luijt RB, Morreau H, Links TP, Hes FJ; Dutch Pediatric Thyroid Cancer Consortium. van der Tuin K, et al. J Clin Endocrinol Metab. 2024 Nov 18;109(12):e2214-e2221. doi: 10.1210/clinem/dgae107. J Clin Endocrinol Metab. 2024. PMID: 38415346 Free PMC article.
CONTEXT: The underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predictive testing of family members and preventive clinical management. ...RESULTS: In total, 13 of 97 patients (13%) carried a germline (likely …
CONTEXT: The underlying genetic cause of nonmedullary thyroid cancer (NMTC) in children is often unknown, hampering both predi …
29 results