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Hereditary Cancer in Clinical Practice
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1.

550
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

2.

321
Accesses

Review   Open Access

Systemic treatment for hereditary cancers: a 2012 update

Evgeny N Imyanitov, Tomasz Byrski Hereditary Cancer in Clinical Practice 2013, 11:2 (1 April 2013)

Abstract | Full text | PDF | PubMed

3.

308
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

4.

307
Accesses

Review   Open Access

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

5.

259
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

6.

240
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

7.

228
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

8.

226
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

9.

221
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

10.

218
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

11.

213
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

12.

190
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

13.

194
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.

14.

185
Accesses

Research   Open Access

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

15.

181
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

16.

172
Accesses

Review   Open Access

A short guide to hereditary diffuse gastric cancer

Parry Guilford, Vanessa Blair, Helen More, Bostjan Humar Hereditary Cancer in Clinical Practice 2007, 5:183-194 (15 December 2007)

Abstract | Full text | PDF | PubMed

17.

172
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

18.

166
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

19.

162
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

20.

162
Accesses

Case report   Open Access

Should extragonadal germ cell tumors be included in studies of families with testicular germ cell tumors?

Rodrigo Santa Cruz Guindalini, Edite Paulo de Oliveira, Marina Cavalcanto Moroja Silvino, Paulo Marcelo Hoff, Bernardo Garicochea Hereditary Cancer in Clinical Practice 2013, 11:1 (4 March 2013)

Abstract | Full text | PDF | PubMed

21.

156
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

22.

155
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.

23.

154
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

24.

154
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

25.

152
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!

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