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Hereditary Cancer in Clinical Practice
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26.

1379
Accesses

Research   Open Access Highly Accessed

Lynch syndrome: barriers to and facilitators of screening and disease management

Kathy E Watkins, Christine Y Way, Jacqueline J Fiander, Robert J Meadus, Mary Esplen, Jane S Green, Valerie C Ludlow, Holly A Etchegary, Patrick S Parfrey Hereditary Cancer in Clinical Practice 2011, 9:8 (7 September 2011)

Abstract | Full text | PDF | PubMed

27.

1351
Accesses

Review   Open Access

DNA and RNA analyses in detection of genetic predisposition to cancer

Grzegorz Kurzawski, Dagmara Dymerska, Pablo Serrano-Fernández, Joanna Trubicka, Bartłomiej Masojć, Anna Jakubowska, Rodney J Scott Hereditary Cancer in Clinical Practice 2012, 10:17 (4 December 2012)

Abstract | Full text | PDF | PubMed

28.

1346
Accesses

Research   Open Access

Close ties: an exploratory Colored Eco-Genetic Relationship Map (CEGRM) study of social connections of men in Familial Testicular Cancer (FTC) families

June A Peters, Regina Kenen, Lindsey M Hoskins, Gladys M Glenn, Christian Kratz, Mark H Greene Hereditary Cancer in Clinical Practice 2012, 10:2 (1 March 2012)

Abstract | Full text | PDF | PubMed

29.

1341
Accesses

Research   Open Access

Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models

Karen A Kopciuk, Yun-Hee Choi, Elena Parkhomenko, Patrick Parfrey, John McLaughlin, Jane Green, Laurent Briollais Hereditary Cancer in Clinical Practice 2009, 7:16 (28 October 2009)

Abstract | Full text | PDF | PubMed

30.

1263
Accesses

Research   Open Access

Chemokine Ligand 5 (CCL5) and chemokine receptor (CCR5) genetic variants and prostate cancer risk among men of African Descent: a case-control study

LaCreis R Kidd, Dominique Z Jones, Erica N Rogers, Nayla C Kidd, Sydney Beache, James E Rudd, Camille Ragin, Maria Jackson, Norma McFarlane-Anderson, Marshall Tulloch-Reid, Seian Morrison, Guy N Brock, Shirish S Barve, Kevin S Kimbro Hereditary Cancer in Clinical Practice 2012, 10:16 (20 November 2012)

Abstract | Full text | PDF | PubMed

31.

1255
Accesses

Research   Open Access

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece

Chrissovaladis Koumpis, Constantine Dimitrakakis, Aris Antsaklis, Robert Royer, Shiyu Zhang, Steven A Narod, Joanne Kotsopoulos Hereditary Cancer in Clinical Practice 2011, 9:10 (15 November 2011)

Abstract | Full text | PDF | PubMed

32.

1245
Accesses

Research   Open Access Highly Accessed

Risk perception after genetic counseling in patients with increased risk of cancer

Johanna Rantala, Ulla Platten, Gunilla Lindgren, Bo Nilsson, Brita Arver, Annika Lindblom, Yvonne Brandberg Hereditary Cancer in Clinical Practice 2009, 7:15 (23 August 2009)

Abstract | Full text | PDF | PubMed |  Editor’s summary

Risk counseling for patients with increased cancer risk is an integral part of genetic counseling, and research has shown patients have a more accurate perception of risk after counseling.

33.

1227
Accesses

Research   Open Access

Novel germline CDK4 mutations in patients with head and neck cancer

Maimoona Sabir, Ruqia Baig, Ishrat Mahjabeen, Mahmood Kayani Hereditary Cancer in Clinical Practice 2012, 10:11 (29 August 2012)

Abstract | Full text | PDF | PubMed

34.

1213
Accesses

Research   Open Access

Molecular study of the perforin gene in familial hematological malignancies

Rim El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima Omri, Yosra Youssef, Mohamed Laatiri, Laetitia Huiart, François Eisinger, Laetitia Rabayrol, Marc Frenay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, Saloua Jemni, Testsuro Noguchi, Hagay Sobol, Zohra Soua Hereditary Cancer in Clinical Practice 2011, 9:9 (21 September 2011)

Abstract | Full text | PDF | PubMed

35.

1203
Accesses

Research   Open Access Highly Accessed

How do women at increased, but unexplained, familial risk of breast cancer perceive and manage their risk? A qualitative interview study

Louise A Keogh, Belinda J McClaren, Carmel Apicella, John L Hopper, the Australian Breast Cancer Family Study Hereditary Cancer in Clinical Practice 2011, 9:7 (6 September 2011)

Abstract | Full text | PDF | PubMed

36.

1193
Accesses

Case report   Open Access

Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers

Ramunas Janavicius, Pavel Elsakov Hereditary Cancer in Clinical Practice 2012, 10:1 (10 January 2012)

Abstract | Full text | PDF | PubMed

37.

1179
Accesses

Research   Open Access Highly Accessed

Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario

Yun-Hee Choi, Michelle Cotterchio, Gail McKeown-Eyssen, Monga Neerav, Bharati Bapat, Kevin Boyd, Steven Gallinger, John McLaughlin, Melyssa Aronson, Laurent Briollais Hereditary Cancer in Clinical Practice 2009, 7:14 (23 August 2009)

Abstract | Full text | PDF | PubMed

38.

1179
Accesses

Research   Open Access

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

Ingrid P Ewald, Patrícia Izetti, Fernando R Vargas, Miguel AM Moreira, Aline S Moreira, Carlos A Moreira-Filho, Danielle R Cunha, Sara Hamaguchi, Suzi A Camey, Aishameriane Schmidt, Maira Caleffi, Patrícia Koehler-Santos, Roberto Giugliani, Patricia Ashton-Prolla Hereditary Cancer in Clinical Practice 2011, 9:12 (20 December 2011)

Abstract | Full text | PDF | PubMed

39.

1178
Accesses

Research   Open Access

Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease

Nikola A Bowden, Amanda Croft, Rodney J Scott Hereditary Cancer in Clinical Practice 2007, 5:79-96 (15 June 2007)

Abstract | Full text | PDF | PubMed

40.

1155
Accesses

Research   Open Access

Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps

Paul Tescher, Finlay A Macrae, Tony Speer, Damien Stella, Robert Gibson, Jason A Tye-Din, Geeta Srivatsa, Ian T Jones, Kaye Marion Hereditary Cancer in Clinical Practice 2010, 8:3 (4 April 2010)

Abstract | Full text | PDF | PubMed

41.

1149
Accesses

Case report   Open Access

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

Giovanni Ponti, Aldo Tomasi, Lorenza Pastorino, Cristel Ruini, Carmelo Guarneri, Victor Mandel, Stefania Seidenari, Giovanni Pellacani Hereditary Cancer in Clinical Practice 2012, 10:15 (29 October 2012)

Abstract | Full text | PDF | PubMed

42.

1127
Accesses

Research   Open Access Highly Accessed

Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives

Audrey Ardern-Jones, Regina Kenen, Elly Lynch, Rebecca Doherty, Rosalind Eeles Hereditary Cancer in Clinical Practice 2010, 8:1 (12 January 2010)

Abstract | Full text | PDF | PubMed

43.

1111
Accesses

Research   Open Access

The R337H mutation in TP53 and breast cancer in Brazil

Magda CB Gomes, Joanne Kotsopoulos, Gutemberg de Almeida, Mauricio M Costa, Roberto Vieira, Firmino de AG Filho, Marcos B Pitombo, Paulo F Leal, Robert Royer, Phil Zhang, Steven A Narod Hereditary Cancer in Clinical Practice 2012, 10:3 (28 March 2012)

Abstract | Full text | PDF | PubMed

44.

1101
Accesses

Poster presentation   Open Access

Hyperplastic polyposis syndrome: a call for broader diagnostic criteria

Matthew F Kalady, Awad M Jarrar, Lisa LaGuardia, Margaret O'Malley, James M Church Hereditary Cancer in Clinical Practice 2010, 8(Suppl 1):P8 (25 May 2010)

Full text | PDF

45.

1085
Accesses

Research   Open Access

Germline PTEN mutations are rare and highly penetrant

Cecilie F Rustad, Merete Bjørnslett, Ketil R Heimdal, Lovise Mæhle, Jaran Apold, Pål Møller Hereditary Cancer in Clinical Practice 2006, 4:177-185 (15 December 2006)

Abstract | Full text | PDF | PubMed

46.

1080
Accesses

Research   Open Access

Screening for ovarian cancer in women with varying levels of risk, using annual tests, results in high recall for repeat screening tests

Marielle AE Nobbenhuis, Elizabeth Bancroft, Eleanor Moskovic, Fiona Lennard, Paul Pharoah, Ian Jacobs, Ann Ward, Desmond PJ Barton, Thomas EJ Ind, John H Shepherd, Jane E Bridges, Martin Gore, Chris Haracopos, Susan Shanley, Audrey Ardern-Jones, Sarah Thomas, Ros Eeles Hereditary Cancer in Clinical Practice 2011, 9:11 (23 November 2011)

Abstract | Full text | PDF | PubMed

47.

1074
Accesses

Research   Open Access

The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program

Aparna Mukherjee, Thomas J McGarrity, Francesca Ruggiero, Walter Koltun, Kevin McKenna, Lisa Poritz, Maria J Baker Hereditary Cancer in Clinical Practice 2010, 8:9 (22 November 2010)

Abstract | Full text | PDF | PubMed |  Editor’s summary

The utilization of the revised Bethesda guidelines to identify patients with Lynch syndrome was studied at a North-American university hospital. Several barriers in applying these criteria were revealed. The most important ones were limited family histories captured by health care providers, inconsistent reporting of MSI-H histology for colorectal cancer specimens by pathologists, and limited consultation for genetic counseling due to lack of insurance coverage.

48.

1066
Accesses

Research   Open Access

Survival in Norwegian BRCA1 mutation carriers with breast cancer

Anne Hagen, Steinar Tretli, Lovise Mæhle, Jaran Apold, Nina Vedå, Pål Møller Hereditary Cancer in Clinical Practice 2009, 7:7 (14 April 2009)

Abstract | Full text | PDF | PubMed

49.

1065
Accesses

Research   Open Access

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Els van Riel, Margreet GEM Ausems, Frans BL Hogervorst, Irma Kluijt, Marielle E van Gijn, Jeanne van Echtelt, Karen Scheidel-Jacobse, Eric FAM Hennekam, Rein P Stulp, Yvonne J Vos, G Johan A Offerhaus, Fred H Menko, Johan JP Gille Hereditary Cancer in Clinical Practice 2010, 8:7 (12 August 2010)

Abstract | Full text | PDF | PubMed |  Editor’s summary

In this study, six Dutch families with Lynch syndrome sharing the c.112A>C, p.Asn38His MLH1 mutation were reported. The authors combined data from literature with family data like co-segregation of the MSI/IHC results and the MLH1 variant with disease, germline mutation analysis of all MMR genes, haplotype analysis, geneaology, and germline mutation testing of healthy controls. The authors conclude that c.112A>C is a pathogenic MLH1 founder mutation.

50.

1049
Accesses

Research   Open Access

Standard psychological consultations and follow up for women at increased risk of hereditary breast cancer considering prophylactic mastectomy

Murly BM Tan, Eveline MA Bleiker, Marian BE Menke-Pluymers, Arthur R Van Gool, Silvia van Dooren, Bert N Van Geel, Madeleine MA Tilanus-Linthorst, Karina CM Bartels, Jan GM Klijn, Cecile TM Brekelmans, Caroline Seynaeve Hereditary Cancer in Clinical Practice 2009, 7:6 (31 March 2009)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

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