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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

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Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care
Graffeo, R, Livraghi, L, Pagani, O, Goldhirsch, A, Partridge, AH, Garber, JE, Breast Cancer Research and Treatment, October, 2016.

Breast Cancer Risk in Families with Mutations in PALB2
Antoniou, AC, Casadei, S, Heikknen, T, et al., New England Journal of Medicine, Vol 371, pp. 497-506, (2014).

2014 research study that shows the link between PALB2 mutations and breast cancer risk.

Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni Syndrome
Kamihara, J, Rana, HQ, and Garber, JE, “Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni Syndrome,”Human Mutation: Variation, Informatics, and Disease, Vol. 35, No. 6, pp: 654-662 (2014).

Article from 2014 with updates on the management of TP53 mutations.

Next-generation Sequencing for Hereditary Breast and Gynecologic Cancer Risk Assessment
Kurian, AW, Kingham, KE, and Ford, JM, “Next-generation Sequencing for Hereditary Breast and Gynecologic Cancer Risk Assessment,” Current Opinion in Obstetrics and Gynecology, Vol. 27, No. 1, pp. 23-33 (2015).

Genetic/Familial High-Risk Assessment: Breast and Ovarian
NCCN Clinical Practice Guidelines in Oncology, “Genetic/Familial High-Risk Assessment: Breast and Ovarian,” Version 1.2015

Risk Assessment, Genetic Counseling, and Clinical Care for Hereditary Breast Cancer
Powers, J and Stopfer, JE, “Risk Assessment, Genetic Counseling, and Clinical Care for Hereditary Breast Cancer,” Journal of Obstetric, Gynecologic, and Clinical Care for Hereditary Cancer, Vol. 43, No. 3, pp. 361-373 (2014).

Cowden Syndrome: A Critical Review of the Clinical Literature
Pilaraski, R, “Cowden Syndrome: A Critical Review of the Clinical Literature,” Journal of Genetic Counseling, Vol. 18, pp. 13-27. (2009).

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Pilarski, R, Burt, R, Kohlman, W. et al., “Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria,” Journal of the National Cancer Institute Vol. 105, No. 21, pp. 1608-1615 (2013).

Genetics of Breast Cancer: A Topic in Evolution
Shiovitz, S and Korde, LA, “Genetics of Breast Cancer: A Topic in Evolution,” Annals of Oncology, published online January 20, 2015.

Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
Gammon, A, Jasperson,K, and Champine, M, Application of Clinical Genetics, Vol. 9, pp. 83-92, July, 13, 2016. (Full text Available)

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer
Carethers, JM, and Stoffel, EM, World Journal of Gastroenterology, Vol. 21, No. 31, pp. 9253–9261, August, 21, 2015. (Full text available)

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carrier
van der Post, RS, Vogelaar, IP, Carneiro, F, et al., Journal of Medical Genetics, Vol, 52, No. 6, pp. 361-374, June, 2015. (Free full text)

Peutz-Jeghers Syndrome
McGarrity, TJ, Amos, CI, and Baker, MJ, Gene Reviews, July 14, 2016. (Free full text)

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