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Genetic Testing

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Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers
Brian Drohan, PhD, Constance A. Roche, MSN, RN, James C. Cusack Jr., MD, and Kevin S. Hughes, MD. Ann Surg Oncol. Volume. 19:6. p. 1732–1737, June 2012.

Provides estimates on the number of people in the US with a BRCAmutation and how many people have been tested.

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Walsh, T., Casadei, S., Ming, L., Pennil, C., Nord, A., Thornton, A., Roeb, W. Agnew, K., Stray, S., Wickramanayake, A., Norquist, B., Pennington, K., Garcia, R., King, MC and Swisher, E. Proceedings of the National Academy of Sciences. Vol. 108: no. 44 p. 18032-18037. November 2011.

A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients
Carla C. Wárlám-Rodenhuis, Veronica C.M. Koot, Rob B. van der Luijt, Hans F.A. Vasen and Margreet G.E.M. Ausems.
European Journal of Cancer . Volume 41, Issue 10: p. 1409-1415, July 2005.

Classification of BRCA1 missense variants of unknown clinical significance
C M Phelan, V api, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij, G Chenevix-Trench, kConFab, T Caldes, M de La Hoya, S Lindquist, S V Tavtigian, D Goldgar, Å Borg, S A Narod and A N A Monteiro.
Journal of Medical Genetics. Volume 42, Number 2: p. 138-146, May 2005.

Racial Differences in the Use of BRCA1/2 Testing Among Women With a Family History of Breast or Ovarian Cancer
Katrina Armstrong, MD, MSCE; Ellyn Micco, BA; Amy Carney, BA; Jill Stopfer, MS; Mary Putt, ScD. Journal of the American Medical Association. Volume 293, Number 14: p. 1729-1736.

Knowledge, Attitudes, and Utilization of BRCA1/2 Testing among Women with Early-Onset Breast Cancer
Peters N, Domcheck SM, Rose A, Polis R, Stopfer J, Armstrong K.
Genetic Testing. Volume 9, Number 1: p. 48-53, March 2005.

Functional Evaluation and Cancer Risk Assessment of BRCA2 Unclassified Variants
Kangjian Wu, Shannon R. Hinson, Akihiro Ohashi, Daniel Farrugia, Patricia Wendt, Sean V. Tavtigian, Amie Deffenbaugh, David Goldgar and Fergus J. Couch. Cancer Research. Volume 65, Number 2: p. 417-426, January 2005.

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study
Silvia de Sanjosé, Mélanie Léoné, Victoria Bérez, Angel Izquierdo, Rebeca Font, Joan M. Brunet, Thierry Louat, Loreto Vilardell, Joan Borras, Pau Viladiu, F. Xavier Bosch, Gilbert M. Lenoir, Olga M. Sinilnikova. International Journal of Cancer. Volume 106, Issue 4: p. 588 - 593, September 2003.

Psychosocial Predictors of BRCA Counseling and Testing Decisions among Urban African-American Women
Hayley S. Thompson, Heiddis B. Valdimarsdottir, Chantal Duteau-Buck, Josephine Guevarra, Dana H. Bovbjerg, Cassandra Richmond-Avellaneda, David Amarel, Diana Godfrey, Karen Brown and Kenneth Offit. Cancer Epidemiology Biomarkers & Prevention. Volume 11: p. 1579-1585, December 2002.

What do ratings of cancer-specific distress mean among women at high risk of breast and ovarian cancer?
James C. Coyne, Linda Kruus, Melissa Racioppo, Kathleen A. Calzone, Katrina Armstrong. American Journal of Medical Genetics. Volume 116A, Issue 3: p. 222-228, September 2002.

Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals
Thomas S. Frank, Amie M. Deffenbaugh, Julia E. Reid, Mark Hulick, Brian E. Ward, Beth Lingenfelter, Kathi L. Gumpper, Thomas Scholl, Sean V. Tavtigian, Dmitry R. Pruss, Gregory C. Critchfield. Journal of Clinical Oncology. Volume 20, Issue 6: p. 1480-1490, March 2002.


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