Issue 3/2017
Content (20 Articles)
Detection of false positive mutations in BRCA gene by next generation sequencing
Moushumi Suryavanshi, Dushyant Kumar, Manoj Kumar Panigrahi, Meenakshi Chowdhary, Anurag Mehta
Outcomes of retesting BRCA negative patients using multigene panels
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Paine, Dana Zakalik
Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients
Sumadee De Silva, Kamani Hemamala Tennekoon, Aravinda Dissanayake, Kanishka De Silva, Lakshika Jayasekara
The association between prognosis of breast cancer and first-degree family history of breast or ovarian cancer: a systematic review and meta-analysis
Jun-Long Song, Chuang Chen, Jing-Ping Yuan, Sheng-Rong Sun
Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens
Mohammad R. Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A. Risch, Barry Rosen, Patricia Shaw, Thomas A. Sellers, Joellen Schildkraut, Steven A. Narod, Tuya Pal
Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome
Maureen E. Mork, Andrea Rodriguez, Melissa W. Taggart, Miguel A. Rodriguez-Bigas, Patrick M. Lynch, Sarah A. Bannon, Y. Nancy You, Eduardo Vilar
Gastric tumours in FAP
Sarah-Jane Walton, Ian M. Frayling, Susan K. Clark, Andrew Latchford
Gastric cancer in FAP: a concerning rise in incidence
Gautam Mankaney, Pamela Leone, Michael Cruise, Lisa LaGuardia, Margaret O’Malley, Amit Bhatt, James Church, Carol A. Burke
Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives
Jessica Ezzell Hunter, Kathleen A. Arnold, Jennifer E. Cook, Jamilyn Zepp, Marian J. Gilmore, Alan F. Rope, James V. Davis, Kellene M. Bergen, Elizabeth Esterberg, Kristin R. Muessig, Susan K. Peterson, Sapna Syngal, Louise Acheson, Georgia Wiesner, Jacob Reiss, Katrina A. B. Goddard
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer
Makia J. Marafie, Mohammed Dashti, Fahd Al-Mulla
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases
Leora Witkowski, Nancy Donini, Rebecca Byler-Dann, James A. Knost, Steffen Albrecht, Andrew Berchuck, W. Glenn McCluggage, Martin Hasselblatt, William D. Foulkes
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
Maryam Mahmoodi, Tu Nguyen-Dumont, Fleur Hammet, Bernard J. Pope, Daniel J. Park, Melissa C. Southey, John M. Darlow, Fiona Bruinsma, Ingrid Winship
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report
Hu Tan, Xianda Wei, Pu Yang, Yanru Huang, Haoxian Li, Desheng Liang, Lingqian Wu
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
Kate A. McBride, Mandy L. Ballinger, Timothy E. Schlub, Mary-Anne Young, Martin H. N. Tattersall, Judy Kirk, Ros Eeles, Emma Killick, Leslie G. Walker, Sue Shanley, David M. Thomas, Gillian Mitchell
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls
Sibel Saya, Emma Killick, Sarah Thomas, Natalie Taylor, Elizabeth K. Bancroft, Jeanette Rothwell, Sarah Benafif, Alexander Dias, Christos Mikropoulos, Jenny Pope, Anthony Chamberlain, Ranga Gunapala, Louise Izatt, Lucy Side, Lisa Walker, Susan Tomkins, Jackie Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana Eccles, Martin O. Leach, Susan Shanley, Fiona J. Gilbert, Helen Hanson, David Gallagher, Bala Rajashanker, Richard W. Whitehouse, Dow-Mu Koh, S. Aslam Sohaib, D. Gareth Evans, Rosalind A. Eeles
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics
Benjamin Derbez, Antoine de Pauw, Dominique Stoppa-Lyonnet, Sandrine de Montgolfier
Patients with negative multi-gene panel testing: a back to the future paradox?
Steven M. Sorscher