J N Weitzel


Affiliation: City of Hope National Medical Center
Country: USA


  1. Somlo G, Frankel P, Arun B, Ma C, Garcia A, Cigler T, et al. Efficacy of the PARP Inhibitor Veliparib with Carboplatin or as a Single Agent in Patients with Germline BRCA1- or BRCA2-Associated Metastatic Breast Cancer: California Cancer Consortium Trial NCT01149083. Clin Cancer Res. 2017;23:4066-4076 pubmed publisher
    ..Lasting CRs were observed when the combination was administered first in the phase I trial. Further investigation of PAR level association with clinical outcomes is warranted. Clin Cancer Res; 23(15); 4066-76. ©2017 AACR. ..
  2. Weitzel J, Blazer K, MacDonald D, Culver J, Offit K. Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine. CA Cancer J Clin. 2011;61:327-59 pubmed publisher
  3. Solomon I, Rybak C, Van Tongeren L, Kuzmich L, Blazer K, Nehoray B, et al. Experience Gained from the Development and Execution of a Multidisciplinary Multi-syndrome Hereditary Colon Cancer Family Conference. J Cancer Educ. 2018;: pubmed publisher
    ..In conclusion, we share our experience and provide guidance for developing a successful hereditary colon cancer predisposition patient and family conference. ..
  4. Weitzel J, Chao E, Nehoray B, Van Tongeren L, Laduca H, Blazer K, et al. Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018;20:809-816 pubmed publisher
    ..8%, P = 0.005). ACE confounds germ-line diagnosis, may portend hematologic malignancy, and may provoke unwarranted clinical interventions. Ancillary testing to confirm germ-line status should precede Li-Fraumeni syndrome management. ..
  5. Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015;17:61 pubmed publisher
    ..This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. ..
  6. Weitzel J. The Genetics of Breast Cancer: What the Surgical Oncologist Needs to Know. Surg Oncol Clin N Am. 2015;24:705-32 pubmed publisher
    ..The rapid pace of change will continue to challenge paradigms for genetic cancer risk assessment, which can influence the medical and surgical management of breast cancer risk as well as strategies for screening and for risk reduction. ..
  7. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  8. Sunga A, Ricker C, Espenschied C, Castillo D, Melas M, Herzog J, et al. Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. Cancer Genet. 2017;212-213:1-7 pubmed publisher
    ..This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. ..
  9. request reprint
    Weitzel J, McCaffrey S, Nedelcu R, MacDonald D, Blazer K, Cullinane C. Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003;138:1323-8; discussion 1329 pubmed
    ..Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging. ..

More Information


  1. request reprint
    Weitzel J, Lagos V, Blazer K, Nelson R, Ricker C, Herzog J, et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2005;14:1666-71 pubmed
    ..The BRCA1185delAG mutation was prevalent (3.6%) in this clinic-based cohort of predominantly Mexican descent, and shared the Ashkenazi Jewish founder haplotype. ..
  2. request reprint
    Weitzel J, Lagos V, Herzog J, Judkins T, Hendrickson B, Ho J, et al. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2007;16:1615-20 pubmed
    ..This BRCA1 rearrangement was detected in 3.8% (4 of 106) of BRCA sequence-negative Hispanic families. An assay for this mutation should be considered for sequence-negative high-risk Hispanic patients. ..