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Hereditary Cancer in Clinical Practice
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1.

2908
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed

2.

2860
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

3.

2317
Accesses

Case report   Open Access Highly Accessed

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)

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

4.

2287
Accesses

Review   Open Access Highly Accessed

Drug therapy for hereditary cancers

Evgeny N Imyanitov, Vladimir M Moiseyenko Hereditary Cancer in Clinical Practice 2011, 9:5 (6 August 2011)

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

5.

2126
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed |  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.

6.

2093
Accesses

Short report   Open Access

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)

Abstract | Full text | PDF | PubMed

7.

2042
Accesses

Research   Open Access Highly Accessed

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

Nadine Jalkh, Jinane Nassar-Slaba, Eliane Chouery, Nabiha Salem, Nancy Uhrchammer, Lisa Golmard, Domique Stoppa-Lyonnet, Yves-Jean Bignon, André Mégarbané Hereditary Cancer in Clinical Practice 2012, 10:7 (19 June 2012)

Abstract | Full text | PDF | PubMed

8.

1996
Accesses

Research   Open Access

Chronic lymphocytic leukaemia: clinical-aetiological findings in 66 patients and their families

Walter Weber, Patrick F Maurer, Jacqueline Estoppey, Marcel Zwahlen Hereditary Cancer in Clinical Practice 2007, 5:210-212 (15 December 2007)

Abstract | Full text | PDF | PubMed

9.

1964
Accesses

Review   Open Access

Familial paragangliomas

CJM Lips, EGWM Lentjes, JWM Höppener, RB Luijt, FL Moll Hereditary Cancer in Clinical Practice 2006, 4:169-176 (15 October 2006)

Abstract | Full text | PDF | PubMed

10.

1912
Accesses

Review   Open Access Highly Accessed

Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

Ingrid P Vogelaar, Rachel S van der Post, Tanya M Bisseling, J Han JM van Krieken, Marjolijn JL Ligtenberg, Nicoline Hoogerbrugge Hereditary Cancer in Clinical Practice 2012, 10:18 (12 December 2012)

Abstract | Full text | PDF | PubMed

11.

1852
Accesses

Research   Open Access Highly Accessed

Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations

Katarina Bartuma, Mef Nilbert, Christina Carlsson Hereditary Cancer in Clinical Practice 2012, 10:6 (25 May 2012)

Abstract | Full text | PDF | PubMed

12.

1843
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

13.

1810
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

14.

1771
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed |  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.

15.

1746
Accesses

Meeting abstract   Open Access

BRCA1 mutation- oncological treatment- reconstructive surgery of the breast- pregnancy: diagnostic and therapeutic procedures in a 28 year old patient diagnosed with a tumor in the left breast with a BRCA1 mutation

Ewa Kilar Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A9 (12 January 2012)

Full text | PDF

16.

1706
Accesses

Case report   Open Access

Challenges in the management of a patient with Cowden syndrome: case report and literature review

Inga Melbārde-Gorkuša, Arvīds Irmejs, Dace Bērziņa, Ilze Štrumfa, Arnis Āboliņš, Andris Gardovskis, Signe Subatniece, Genādijs Trofimovičs, Jānis Gardovskis, Edvīns Miklaševičs Hereditary Cancer in Clinical Practice 2012, 10:5 (14 April 2012)

Abstract | Full text | PDF | PubMed

17.

1689
Accesses

Review   Open Access

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

Christopher D Heinen, LJ Rasmussen Hereditary Cancer in Clinical Practice 2012, 10:9 (23 July 2012)

Abstract | Full text | PDF | PubMed

18.

1638
Accesses

Research   Open Access

BRAF mutations in thyroid tumors from an ethnically diverse group

Hans-Juergen Schulten, Sherine Salama, Zuhoor Al-Mansouri, Reem Alotibi, Khalid Al-Ghamdi, Osman Al-Hamour, Hassan Sayadi, Hosam Al-Aradati, Adel Al-Johari, Etimad Huwait, Mamdooh Gari, Mohammed Al-Qahtani, Jaudah Al-Maghrabi Hereditary Cancer in Clinical Practice 2012, 10:10 (27 August 2012)

Abstract | Full text | PDF | PubMed

19.

1638
Accesses

Research   Open Access Highly Accessed

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 |  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!

20.

1617
Accesses

Research   Open Access

Familial Cervical Cancer: Case Reports, Review and Clinical Implications

Margreet Zoodsma, Rolf H Sijmons, Elisabeth GE de Vries, Ate Zee Hereditary Cancer in Clinical Practice 2004, 2:99-105 (15 May 2004)

Abstract | Full text | PDF | PubMed

21.

1590
Accesses

Review   Open Access

Genetic Screening for Familial Gastric Cancer

Carla Oliveira, Gianpaolo Suriano, Paulo Ferreira, Paulo Canedo, Pardeep Kaurah, Rita Mateus, Ana Ferreira, António C Ferreira, Maria Oliveira, Céu Figueiredo, Fátima Carneiro, Gisela Keller, David Huntsman, José Machado, Raquel Seruca Hereditary Cancer in Clinical Practice 2004, 2:51-64 (15 May 2004)

Abstract | Full text | PDF | PubMed

22.

1581
Accesses

Research   Open Access

A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome

Ani Kardashian, Julia Fehniger, Jennifer Creasman, Eleanor Cheung, Mary Beattie Hereditary Cancer in Clinical Practice 2012, 10:4 (12 April 2012)

Abstract | Full text | PDF | PubMed

23.

1581
Accesses

Research   Open Access

Factors influencing receptivity to future screening options for pancreatic cancer in those with and without pancreatic cancer family history

Carmen Breitkopf, Pamela S Sinicrope, Kari G Rabe, Tabetha A Brockman, Christi A Patten, Robert R McWilliams, Shawna Ehlers, Gloria M Petersen Hereditary Cancer in Clinical Practice 2012, 10:8 (27 June 2012)

Abstract | Full text | PDF | PubMed

24.

1580
Accesses

Research   Open Access

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 |  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.

25.

1504
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

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