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2427
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Drug therapy for hereditary cancers
Evgeny N Imyanitov, Vladimir M Moiseyenko Hereditary Cancer in Clinical Practice 2011, 9:5 (6 August 2011)
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2088
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Unusual presentation of Lynch Syndrome
Veronica PCC Yu, Marco Novelli, Stewart J Payne, Sam Fisher, Rebecca A Barnetson, Ian M Frayling, Ann Barrett, David Goudie, Audrey Ardern-Jones, Ros Eeles, Susan Shanley Hereditary Cancer in Clinical Practice 2009, 7:12 (3 June 2009)
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1837
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Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation
Riad Akoum, Albert Ghaoui, Emile Brihi, Maroun Ghabash, Nicolas Hajjar Hereditary Cancer in Clinical Practice 2009, 7:10 (28 May 2009)
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1755
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Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review
Adrianne R Racek, Kari G Rabe, Myra J Wick, Apostolos Psychogios, Noralane M Lindor Hereditary Cancer in Clinical Practice 2011, 9:1 (4 May 2011)
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Editor’s summary
Published accounts of familial instances of primary appendiceal tumors are strikingly rare. The authors report two siblings who both developed primary mucinous adenocarcinomas, and found one additional affected sib-pair among 316 cases of primary appendiceal cancer of any histologic type recorded in the Mayo clinic. Although these cases may be coincidental, an exceedingly rare predisposition syndrome cannot be ruled out.
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1705
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Factors Influencing Cancer Risk Perception in High Risk Populations: A Systematic Review
Jon C Tilburt, Katherine M James, Pamela S Sinicrope, David T Eton, Brian A Costello, Jantey Carey, Melanie A Lane, Shawna L Ehlers, Patricia J Erwin, Katherine E Nowakowski, Mohammad H Murad Hereditary Cancer in Clinical Practice 2011, 9:2 (19 May 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Patients at higher than average risk of heritable cancer may process risk information differently than the general population. However, little is known about clinical, demographic, or psychosocial predictors that may impact risk perception in these groups. The authors from the Mayo clinic searched literature databases for published research on these topics. Family history of cancer, previous prophylactic tests and treatments, and younger age have been shown to be associated with cancer risk perception. In addition, beliefs about the preventability and severity of cancer, personality factors such as "monitoring" personality, the ability to process numerical information, as well as distress/worry also were associated with cancer risk perception. Few studies addressed non-breast cancer or risk perception in specific demographic groups (e.g. elderly or minority groups) and few employed theory-driven analytic strategies to decipher interrelationships of factors. Clearly, there is need for additional studies.
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6.
1700
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Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
Rolf H Sijmons Hereditary Cancer in Clinical Practice 2008, 6:22-57 (15 March 2008)
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1670
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Familial Multiple Myeloma: Report on Two Families and Discussion of Screening Options
Erica H Gerkes, Mirjam M de Jong, Rolf H Sijmons, Edo Vellenga Hereditary Cancer in Clinical Practice 2007, 5:72-78 (15 June 2007)
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1620
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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
Bente A Talseth-Palmer, Mary McPhillips, Claire Groombridge, Allan Spigelman, Rodney J Scott Hereditary Cancer in Clinical Practice 2010, 8:5 (21 May 2010)
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Editor’s summary
The Australian authors identified 26 different MSH6 and 4 different PMS2 mutations in 35 Lynch syndrome families studied. For MSH6 mutation carriers, the estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer. The risk of developing CRC was found to be different between males and females at age 50 years: 34% for males and 21% for females.
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1509
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Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management
Dewkoemar Ramsoekh, Anja Wagner, Monique E van Leerdam, Dennis Dooijes, Carli MJ Tops, Ewout W Steyerberg, Ernst J Kuipers Hereditary Cancer in Clinical Practice 2009, 7:17 (23 December 2009)
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1453
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Factors associated with testicular self-examination among unaffected men from multiple-case testicular cancer families
Susan T Vadaparampil, Richard P Moser, Jennifer Loud, June A Peters, Mark H Greene, Larissa Korde Hereditary Cancer in Clinical Practice 2009, 7:11 (29 May 2009)
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1388
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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)
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1384
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A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the Identification of 9 New Mutations Previously Unidentified by DGGE
Cliff J Meldrum, Mary McPhillips, Renee Crooks, Lesley Thomas, Ted Edkins, Rohanna Creegan, Ewan Miller, Michael Agrez, Rodney J Scott Hereditary Cancer in Clinical Practice 2003, 1:39-48 (15 December 2003)
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1374
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Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas
Giovanni Ponti, Lorena Losi, Davide Martorana, Manuela Priola, Elisa Boni, Annamaria Pollio, Tauro Neri, Stefania Seidenari Hereditary Cancer in Clinical Practice 2011, 9:6 (12 August 2011)
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1230
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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients
Douglas L Riegert-Johnson, Ferga C Gleeson, Maegan Roberts, Krysta Tholen, Lauren Youngborg, Melvin Bullock, Lisa A Boardman Hereditary Cancer in Clinical Practice 2010, 8:6 (17 June 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
In this study from the Mayo clinic, a total of 211 Cowden syndrome patients were included. The cumulative lifetime risks were 89% for any cancer diagnosis, breast cancer [female] 81%, Lhermitte-Duclos disease 32%, thyroid cancer 21%, endometrial cancer 19%, and renal cancer 15%. A previously unreported increased lifetime risk for colorectal cancer was identified (16%, 95% CI = 8%-24%). Male CS patients had fewer cancers diagnosed than female patients and often had cancers not classically associated with CS. Seven percent of breast and thyroid cancers occurred in patients who were younger than the recommended age to commence radiographic cancer screening!
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15.
1205
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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)
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1196
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Case report: BRCA in the Ashkenazi population: are current testing guidelines too exclusive?
Katherine H Saunders, Shivani Nazareth, Peter I Pressman Hereditary Cancer in Clinical Practice 2011, 9:3 (28 June 2011)
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Editor’s summary
Saunders and colleagues report on a woman from the Ashkenazi Jewish population who was denied testing for BRCA1/2 mutations because no such mutation had been identified in her sister who was diagnosed with breast cancer at age 33. The woman therefore underwent direct-to-consumer DNA testing and discovered that she was a mutation carrier. This case demonstrates the need for clinicians to be aware of the higher prevalence of BRCA mutations in the Ashkenazi population. It also illustrates that individuals may choose to use direct-to-consumer DNA testing if testing in a clinical setting is denied to them.
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17.
1184
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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)
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18.
1125
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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)
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19.
1068
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Population screening for hereditary and familial cancer syndromes in Valka district of Latvia
Andrejs Vanags, Ilze Štrumfa, Andris Gardovskis, Viktors Borošenko, Arnis Āboliņš, Uldis Teibe, Genadijs Trofimovičs, Edvīns Miklaševičs, Jānis Gardovskis Hereditary Cancer in Clinical Practice 2010, 8:8 (29 October 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The authors tested the feasibility of identifying hereditary and familial cancer through a population screening approach. In the Valka district of Latvia and in close collaboration with the family physicians, they managed to collect and analyze family cancer histories from 76% of the population. In 0.4% of this population high-risk and in 3% moderate-risk hereditary cancer syndromes/familial cancer clusters were identified.
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20.
1056
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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)
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21.
1025
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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)
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22.
1024
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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)
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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.
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23.
1001
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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
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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.
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24.
983
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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)
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976
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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)
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