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1

W, Weber, Mulvihill John J. 1943- et Narod Steven A, dir. Familial cancer management. Boca Raton : CRC Press, 1996.

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2

National Cancer Institute (U.S.) et Community Clinical Oncology Program (National Cancer Institute (U.S.)), dir. Concise handbook of familial cancer susceptibility syndromes. 2e éd. [Bethesda, Md.] : Oxford University Press, 2008.

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3

M, Lynch Patrick, et Lynch Henry T, dir. Colon cancer genetics. New York : Van Nostrand Reinhold Co., 1985.

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4

1963-, Morrison Patrick J., Hodgson S. V et Haites Neva E. 1947-, dir. Familial breast and ovarian cancer : Genetics, screening, and management. Cambridge, UK : Cambridge University Press, 2002.

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5

1963-, Morrison Patrick J., Hodgson S. V et Haites Neva E. 1947-, dir. Familial breast and ovarian cancer : Genetics, screening, and management. Cambridge : Cambridge University Press, 2005.

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6

Hoda, Anton-Guirgis, et Lynch Henry T, dir. Biomarkers, genetics, and cancer. New York : Van Nostrand Reinhold, 1985.

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7

International Research Conference on Familial Cancer (2nd 1995 Basel, Switzerland). Hereditary cancer : Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995. Sous la direction de Müller Hj, Scott R. J et Weber W. Basel : Karger, 1996.

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8

T, Lynch Henry, et Hirayama Takeshi 1923-, dir. Genetic epidemiology of cancer. Boca Raton, Fla : CRC Press, 1989.

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9

K, Chaganti R. S., et German James, dir. Genetics in clinical oncology. New York : Oxford University Press, 1985.

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10

Joji, Utsunomiya, Mulvihill John J. 1943-, Weber Walter et International Union against Cancer, dir. Familial cancer and prevention : Molecular epidemiology : a new strategy toward cancer control. New York : Wiley-Liss, 1999.

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11

T, Lynch Henry, et Kullander Stig, dir. Cancer genetics in women. Boca Raton, Fla : CRC Press, 1987.

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12

A, Marks Paul, Memorial Sloan-Kettering Cancer Center, Bristol-Myers Company et Bristol-Myers Symposium on Cancer Research (7th : 1984 : Memorial Sloan-Kettering Cancer Center), dir. Genetics, cell differentiation, and cancer. Orlando : Academic Press, 1985.

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13

L, Bottorff J., et National Cancer Institute of Canada., dir. Uncertainties and challenges : Communicating risk in the context of familial cancer :report to the National Cancer Institute of Canada. Vancouver, B.C : School of Nursing, the University of British Columbia, 1996.

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14

Familial and hereditary tumors. Berlin : Springer-Verlag, 1994.

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15

Timothy, Bishop D., Falk Catherine T, MacCluer Jean W et Genetic Analysis Workshop (4th : 1985 : Snowbird, Utah), dir. Genetic epidemiology : Applications and comparisons of methods. New York : Liss, 1987.

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16

Kessel, A. Genetic testing for breast cancer and familial breast cancer clinics : A needs assessment. Barking : Public Health Directorate, Barking & Havering Health Authority, 1998.

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17

Antebi, Yael Jennifer. Genetic predisoposition to ovarian cancer in Ashenazi Jewish families. Ottawa : National Library of Canada, 1998.

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18

Patenaude, Andrea Farkas. Genetic testing for cancer : Psychological approaches for helping patients and families. Washington : American Psychological Association, 2005. http://dx.doi.org/10.1037/10828-000.

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19

National Cancer Institute (U.S.). Clinical Genetics Branch. Inherited bone marrow failure syndromes : Studying families with rare blood disorders and risk of cancer. Bethesda, Md.] : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, 2002.

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20

Parker, James N., et Philip M. Parker. Familial adenomatous polyposis : A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA : ICON Health Publications, 2007.

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21

King, Susan. Eating pomegranates : A memoir of mothers, daughters and genes. [Toronto] : Bond Street Books, 2009.

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22

Familial cancer control. Berlin : Springer-Verlag, 1992.

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23

Reynier, C. Julian. Risk Communication In Familial Cancer (Community Genetics). Not Avail, 2004.

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24

Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2005.

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25

Corso, Giovanni, et Franco Roviello. Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2014.

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26

Corso, Giovanni, et Franco Roviello. Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2013.

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27

Corso, Giovanni, et Franco Roviello. Spotlight on Familial and Hereditary Gastric Cancer. Springer London, Limited, 2013.

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28

Spotlight on Familial and Hereditary Gastric Cancer. Springer, 2013.

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29

(Editor), H. J. Muller, R. J. Scott (Editor) et W. Weber (Editor), dir. Hereditary Cancer : Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995. S. Karger Publishers (USA), 1996.

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30

(Editor), Patrick J. Morrison, Shirley V. Hodgson (Editor) et Neva E. Haites (Editor), dir. Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2002.

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31

Morrison, Patrick J., S. V. Hodgson et Neva E. Haites. Familial Breast and Ovarian Cancer : Genetics, Screening, and Management. Cambridge University Press, 2002.

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32

Hodgson, Shirley V., Patrick J. Morrison et Neva E. Haites. Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2002.

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33

Hodgson, Shirley V., Patrick J. Morrison et Neva E. Haites. Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2004.

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34

Hodgson, Shirley V., Patrick J. Morrison et Neva E. Haites. Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2002.

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35

Hodgson, Shirley V., Patrick J. Morrison et Neva E. Haites. Familial Breast and Ovarian Cancer : Genetics, Screening and Management. Cambridge University Press, 2009.

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36

(Editor), Joji Utsunomiya, John J. Mulvihill (Editor) et Walter Weber (Editor), dir. Familial Cancer and Prevention : Molecular Epidemiology : A New Strategy Toward Cancer Control (UICC). Wiley-Liss, 1999.

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37

Jafri, Mariam, et Eamonn R. Maher. Genetics and molecular biology of renal cancer. Sous la direction de James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0084.

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Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.
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38

Cassidy, Jim, Donald Bissett, Roy A. J. Spence OBE, Miranda Payne, Gareth Morris-Stiff et Amen Sibtain. Colorectal cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199689842.003.0015_update_001.

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Breast cancer reviews the epidemiology and aetiology of this malignancy, with particular attention to the genetics underlying familial breast cancer, its pathology along with its receptors, oestrogen receptor (ER), the growth factor receptor HER2, and epidermal growth factor receptor (EGFR), and the bearing these have on treatment and prognosis. The benefits of breast cancer screening in the population and families at higher risk are discussed. Presenting symptoms and signs are followed by investigation including examination, bilateral mammography, and core biopsy of suspicious lesions. Management of non-invasive in situ disease is considered. Invasive breast cancer is staged according to TNM guidelines. Early breast cancer is defined, managed frequently by breast conserving surgery and sentinel node biopsy from the axilla. A positive sentinel node biopsy requires clearance of the axilla. Larger lesions may require mastectomy. Breast radiotherapy is indicated after breast conserving surgery. Following surgery, the risk of systemic micrometastatic disease is estimated from the primary size, lymph node spread, and tumour grade. Adjuvant chemotherapy improves treatment outcome in all but very good prognosis premenopausal breast cancer, and intermediate or poor prognosis postmenopausal breast cancer. This is combined with trastuzumab in HER2 positive disease. Adjuvant endocrine therapy is recommended for all ER positive breast cancer, tamoxifen in premenopausal, aromatase inhibitors in postmenopausal women. Neoadjuvant chemotherapy may be used in large operable breast cancers to facilitate breast conserving surgery. Locally advanced breast cancer is defined, its high risk of metastatic disease requiring full staging before treatment. Systemic therapy is often best first treatment, according to receptor profile. Metastatic breast cancer although incurable can be controlled for years using endocrine therapy, chemotherapy, trastuzumab, palliative radiotherapy, and bisphosphonates as appropriate. Male breast cancer is uncommon, but management similar.
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39

Weber, Walter. Familial Cancer Control. Springer London, Limited, 2012.

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40

Weber, Walter. Familial Cancer Control. Springer, 2011.

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41

Firth, Helen V., et Jane A. Hurst. Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0004.

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This chapter discusses a range of familial cancer predisposition disorders and their genetic implications. The chapter mentions the key points for the examination, the investigations which may be indicated, strategies and resources for risk assessment, and the appropriate genetic advice, as well as a list of support groups.
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42

Reiser, Gwendolyn Marie. Cancer genetics : A guide for counseling families. Media Center, Meyer Rehabilitation Institute, University of Nebraksa Medical Center, 1996.

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43

Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, Chenan Zhang, Brandon Pierce, Sara Lindström et Peter Kraft. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

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Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger number of common variants with modest relative risks. The chapter discusses the implications of these findings for clinical care, public health, and tumor biology. It closes with a discussion of open questions, most notably the puzzle of “missing heritability”: the fact that—despite tremendous advances—multiple lines of evidence suggest that most specific risk variants, both rare and common, have yet to be discovered.
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44

Leon, Maurizio Ponz de. Familial and Hereditary Tumors. Springer, 2012.

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45

Leon, Maurizio Ponz de. Familial and Hereditary Tumors. Springer, 2011.

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46

Joslyn, Geoff, et Joanna Gorden. Familial Adenomatous Polyposis Coli and the Apc Gene (Molecular Biology Intelligence Unit). R G Landes Co, 1994.

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47

Beebe-Dimmer, Jennifer L., Fawn D. Vigneau et David Schottenfeld. Small Intestine Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0035.

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The small intestine extends 6–7 meters from the gastric pylorus to its insertion into the large intestine. Its mucosal surface contains 90% of the absorptive surface area of the digestive tract. Remarkably, in 2015, only about 3% of digestive system cancers and less than 1% of digestive cancer deaths in the United States were observed in the small intestine. In contrast, approximately 50% of cancers in the digestive tract were diagnosed in the large intestine, which measures just 1.5 meters in length. Cancers of the small intestine are among the most heterogeneous of gastrointestinal neoplasms, encompassing pathologic subtypes of neuroendocrine carcinoid, adenocarcinoma, lymphoma, and gastrointestinal stromal tumors. Adenocarcinoma accounted for ~25% to–35% of cancers in the small intestine, in contrast to over 90% of cancers in the large intestine. Genetic syndromes, such as familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), predispose to adenocarcinoma in the small intestine.
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48

(Foreword), Francis S. Collins, dir. Genetic Testing For Cancer : Psychological Approaches for Helping Patients and Families. American Psychological Association (APA), 2004.

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49

Winter, Christian, et Peter Albers. Testicular cancer. Sous la direction de James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0090.

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Testicular germ cell tumours (GCTs) represent the most common solid malignancy of young men aged 15–40 years. The disease is rising in incidence. Germ cell tumours are best divided into those with pure seminoma and non-seminoma (NSGCT) histology. While cryptorchidism is clearly established as a risk factor, the pathogenesis of testicular cancer remains unknown. Familial studies and molecular analyses suggest an association to genetic alterations. Most testicular cancer patients present a primary tumour in the testis. Diagnostic examinations include testis palpation and ultrasound, and measurement of serum tumour markers (AFP, ß-HCG, and LDH). Surgical exploration is obligatory for suspected tumours and radical orchidectomy should be performed if a tumour is found. Prognosis and subsequent treatment depends upon the clinical stage and the IGCCCG classification (in case of advanced GCT disease).
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Taylor, Jennie W., et Scott R. Plotkin. Familial CNS Tumor Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0135.

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Neurofibromatosis type 2 (NF2) is a genetic disorder caused by constitutional mutations in the NF2 tumor-suppressor gene. Bilateral vestibular schwannomas are the hallmark of the syndrome, though meningiomas, ependymomas, and other peripheral schwannomas are common. Inheritance is autosomal dominant and de novo mutations are found in about 50% of patients. Standard treatment for symptomatic tumors is surgery. Radiation therapy may be considered for progressive tumors that are not surgically accessible, but secondary cancers after radiation have been reported. Retrospective studies suggest that bevacizumab may be active for progressive vestibular schwannomas and trials of chemotherapy for NF2-related tumors are in progress. This chapter reviews the epidemiology, genetic features, clinical characteristics, and current treatments for patients with NF2.
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