Hereditary Cancer in Clinical Practice

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		Case report 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 \| Provisional PDF \| PubMed
		Research Prevalence of the BRCA1 founder mutation c.5266dup in Brazilian individuals at-risk for the Hereditary Breast and Ovarian Cancer Syndrome Ingrid P Ewald, Patricia R Izetti, Fernando R Vargas, Miguel A M Moreira, Aline S Moreira, Carlos A Moreira-Filho, Danielle R Cunha, Sara Hamaguchi, Suzi A Camey, Aishameriane Schmidt, Maira Caleffi, Patricia Koehler-Santos, Roberto Giugliani, Patricia Ashton-Prolla Hereditary Cancer in Clinical Practice 2011, 9:12 (20 December 2011) Abstract \| Provisional PDF \| PubMed
		Research 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
		Research 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
		Research 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
		Research 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
		Research 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
		Research 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) Abstract \| Full text \| PDF \| PubMed
		Review 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
		Research Risk perception among Brazilian individuals with high risk for colorectal cancer and colonoscopy Erika M Santos, Maria TC Lourenço, Benedito M Rossi Hereditary Cancer in Clinical Practice 2011, 9:4 (28 July 2011) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary This study focused on predictors of risk perception, and verified whether risk perception is a predictor of colonoscopy adherence. The authors found that risk perception did not predict use of colonoscopy in their study population. The only variable that predicted use of colonoscopy was receiving medical information recommending such surveillance.
		Case report 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) Abstract \| Full text \| PDF \| PubMed \| 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.
		Research 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.
		Case report 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.
		Research 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.
		Research 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 \| 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.
		Research 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.
		Research 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 \| 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!
		Research 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.
		Research BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia Kristiina Tamboom, Krista Kaasik, Jelena Aršavskaja, Mare Tekkel, Aili Lilleorg, Peeter Padrik, Andres Metspalu, Toomas Veidebaum Hereditary Cancer in Clinical Practice 2010, 8:4 (9 April 2010) Abstract \| Full text \| PDF \| PubMed
		Research 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
		Research High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series Pål Møller, Lovise Mæhle, Lars F Engebretsen, Trond Ludvigsen, Christoffer Jonsrud, Jaran Apold, Anita Vabø, Neal Clark Hereditary Cancer in Clinical Practice 2010, 8:2 (19 January 2010) Abstract \| Full text \| PDF \| PubMed
		Research 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
		Research 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
		Research 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
		Research 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.

	All
		Case report 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 \| Provisional PDF \| PubMed
		Research Prevalence of the BRCA1 founder mutation c.5266dup in Brazilian individuals at-risk for the Hereditary Breast and Ovarian Cancer Syndrome Ingrid P Ewald, Patricia R Izetti, Fernando R Vargas, Miguel A M Moreira, Aline S Moreira, Carlos A Moreira-Filho, Danielle R Cunha, Sara Hamaguchi, Suzi A Camey, Aishameriane Schmidt, Maira Caleffi, Patricia Koehler-Santos, Roberto Giugliani, Patricia Ashton-Prolla Hereditary Cancer in Clinical Practice 2011, 9:12 (20 December 2011) Abstract \| Provisional PDF \| PubMed
		Research 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
		Research 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
		Research 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
		Research 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
		Research 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
		Research 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) Abstract \| Full text \| PDF \| PubMed
		Review 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
		Research Risk perception among Brazilian individuals with high risk for colorectal cancer and colonoscopy Erika M Santos, Maria TC Lourenço, Benedito M Rossi Hereditary Cancer in Clinical Practice 2011, 9:4 (28 July 2011) Abstract \| Full text \| PDF \| PubMed \| Editor’s summary This study focused on predictors of risk perception, and verified whether risk perception is a predictor of colonoscopy adherence. The authors found that risk perception did not predict use of colonoscopy in their study population. The only variable that predicted use of colonoscopy was receiving medical information recommending such surveillance.
		Case report 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) Abstract \| Full text \| PDF \| PubMed \| 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.
		Research 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.
		Case report 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.
		Research 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.
		Research 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 \| 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.
		Research 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.
		Research 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 \| 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!
		Research 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.
		Research BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia Kristiina Tamboom, Krista Kaasik, Jelena Aršavskaja, Mare Tekkel, Aili Lilleorg, Peeter Padrik, Andres Metspalu, Toomas Veidebaum Hereditary Cancer in Clinical Practice 2010, 8:4 (9 April 2010) Abstract \| Full text \| PDF \| PubMed
		Research 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
		Research High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series Pål Møller, Lovise Mæhle, Lars F Engebretsen, Trond Ludvigsen, Christoffer Jonsrud, Jaran Apold, Anita Vabø, Neal Clark Hereditary Cancer in Clinical Practice 2010, 8:2 (19 January 2010) Abstract \| Full text \| PDF \| PubMed
		Research 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
		Research 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
		Research 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
		Research 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.