Hereditary cancer syndromes:
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Philadelphia [u.a.]
Saunders
2008
|
| Series: | Surgical clinics of North America
88,4 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIII S., S. 681 - 925 Ill. 24 cm |
| ISBN: | 1416063560 9781416063568 |
Staff View
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| 245 | 1 | 0 | |a Hereditary cancer syndromes |c guest ed. Ismail Jatoi |
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| 650 | 4 | |a Cancer / Susceptibility | |
| 650 | 4 | |a Cancer / Genetic aspects | |
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Record in the Search Index
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| adam_text | HEKEPIFARY CANCfcR SYNDROMES ., „ , i
CONTENTS
Foreword xi
Ronald F. Martin
Preface xiii
Ismail Jatoi
Cancer Genetics: A Primer for Surgeons 681
John R. Benson and Siong-Seng Liau
Contemporary ideas of carcinogenesis envisage a series of
stochastic genetic changes that confer a selective growth advantage
over healthy cells. These changes collectively lead to the disruption
of coordinated networks of intercellular communication and cause
a fundamental change in cellular behavior, which affects processes,
such as proliferation, differentiation, and apoptosis. This progres¬
sive dysregulation of cellular function implies that cancer is not a
morphologic entity, but a process in which the malignant
phenotype is gradually acquired.
Genetic Testing for Cancer Susceptibility 705
Kathleen A. Calzone and Peter W. Soballe
Genetic testing for mutations in genes associated with an inherited
predisposition to cancer is rapidly moving outside specialty genetic
services and into mainstream health care. Surgeons, as front-line
providers of cancer care, are uniquely positioned to identify those
who may benefit from generic testing and institute changes to their
health care management based on those results. This article
provides an overview of the critical elements of the process of
genetic testing for cancer susceptibility.
VOLUME 88 • NUMBER 4 • AUGUST 2008 V
The Genetic Information Nondiscrimination Act: Why Your
Personal Genetics are Still Vulnerable to Discrimination 723
Louise M. Slaughter
Genetic research offers great potential for early treatment and the
prevention of numerous diseases. As technology continues to
advance, ethical, legal, and social challenges continue to present
themselves. The Genetic Information Nondiscrimination Act
(GINA) looks to protect an individual s genetic information from
employer and insurance discrimination while encouraging Amer¬
icans to take advantage of genetic testing to prevent and prepare
for potential diseases. GINA will do more than stamp out a new
form of discrimination: it will help the United States be a leader in
a field of scientific research that holds as much promise as any
other in history.
An Overview of the Role of Prophylactic Surgery in the
Management of Individuals with a Hereditary Cancer
Predisposition 739
Tawakalitu Oseni and Ismail Jatoi
Genetic testing for cancer susceptibility has been implemented
widely in recent years, with the hope that it eventually will lead to
a reduction in cancer-related mortality. Asymptomatic individuals
who have a genetic predisposition for cancer can be identified, and
many may benefit from early intervention. Not all of these
individuals will develop cancer, however, and the penetrance
varies among individuals with different mutations. Surveillance,
chemoprevention, and prophylactic surgery are accepted options
for managing individuals who have a genetic predisposition for
cancer. Yet, there are no randomized prospective trials that have
assessed the impact of these interventions specifically in mutation
carriers. The decision to undergo prophylactic surgery therefore
should be made after all other management options are considered,
and the patient is informed of the potential risks and benefits of
surgery. This article provides an overview of the role of
prophylactic surgery for managing patients who have a genetic
predisposition for cancer. It specifically discusses the potential role
of surgery in preventing breast, colon, thyroid, and gastric cancers.
Additionally, it discusses the types of prophylactic surgical
procedures that are performed commonly, and their expanding
role in cancer prevention.
Hereditary Diffuse Gastric Cancer: Prophylactic Surgical
Oncology Implications 759
Henry T. Lynch, Edibaldo Silva, Debrah Wirtzfeld,
Pamela Hebbard, Jane Lynch, and David G. Huntsman
Hereditary diffuse gastric cancer (HDGC) is an autosomal
dominantly inherited syndrome attributed to mutations of the E-
cadherin gene, CDH1. There is no proven effective screening for
vj CONTENTS
early HDGC, and symptomatic disease is almost universally fatal.
The only available effective option for CDH1 carriers is prophy¬
lactic total gastrectomy, but the variable age of onset of HDGC and
the reduced penetrance (about 70%) of the CDHI gene further
complicate patients decision making.
Hamartomatous Polyposis Syndromes 779
Daniel Calva and James R. Howe
Since the histologic description of the hamartomatous polyp in
1957 by Horrilleno and colleagues, descriptions have appeared of
several different syndromes with the propensity to develop these
polyps in the upper and lower gastrointestinal tracts. These
syndromes include juvenile polyposis, Peutz-Jeghers syndrome,
hereditary mixed polyposis syndrome, and the phosphatase and
tensin homolog gene (PTEN) hamartoma tumor syndromes
(Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are
autosomal-dominantly inherited, and Cronkhite-Canada syn¬
drome, which is acquired. This article reviews the clinical aspects,
the molecular pathogenesis, the affected organ systems, the risks of
cancer, and the management of these hamartomatous polyposis
syndromes. Although the incidence of these syndromes is low, it is
important for clinicians to recognize these disorders to prevent
morbidity and mortality in these patients, and to perform
presymptomatic testing in patients at risk.
Hereditary Colorectal Cancer Syndromes: Familial
Adenomatous Polyposis and Lynch Syndrome 819
Wigdan Al-Sukhni, Melyssa Aronson, and Steven Gallinger
Familial colorectal cancer (CRC) accounts for 10% to 20% of all
cases of CRC. Two major autosomal dominant forms of heritable
CRC are familial adenomatous polyposis (FAP) and Lynch
syndrome (also known as hereditary nonpolyposis colorectal
cancer). Along with the risk for CRC, both syndromes are
associated with elevated risk for other tumors. Improved under¬
standing of the genetic basis of these diseases has not only
facilitated the identification and screening of at-risk individuate
and the development of prophylactic or early-stage intervention
strategies but also provided better insight into sporadic CRC. This
article reviews the clinical and genetic characteristics oi FAP and
Lynch syndrome, recommended screening and surveillance prac¬
tices, and appropriate surgical and nonsurgical interventions.
Management of Women Who Have a Genetic Predisposition
for Breast Cancer 845
Ismail Jatoi and William F. Anderson
The management of women who have a genetic predisposition for
breast cancer requires careful planning. Women who have BRCA 1
CONTENTS vii
and BRCA 2 mutations are at increased risk for breast cancer and
for other cancers as well, particularly ovarian cancer. Screening,
prophlyactic surgery, and chemoprevention are commonly utilized
strategies in the management of these patients, and women may
choose more than one of these strategies. No randomized
prospective trials have assessed the impact of these strategies
specifically in mutaiton carriers. All patients should be informed
that screening, prophylactic surgery, and chemoprevention have
the potential for harm as well as benefit.
Multiple Endocrine Neoplasia Syndromes 863
Glenda G. Callender, Thereasa A. Rich, and Nancy D. Perrier
The multiple endocrine neoplasia (MEN) syndromes are rare
autosomal-dominant conditions that predispose affected individu¬
als to benign and malignant tumors of the pituitary, thyroid,
parathyroids, adrenals, endocrine pancreas, paraganglia, or non-
endocrine organs. The classic MEN syndromes include MEN type
1 and MEN type 2. However, several other hereditary conditions
should also be considered in the category of MEN: von Hippel-
Lindau syndrome, the familial paraganglioma syndromes, Cowden
syndrome, Carney complex, and hyperparathyroidism jaw-tumor
syndrome. In addition, researchers are becoming aware of other
familial endocrine neoplasia syndromes with an unknown genetic
basis that might also fall into the category of MEN. This article
reviews the clinical features, diagnosis, and surgical management
of the various MEN syndromes and genetic risk assessment for
patients presenting with one or more endocrine neoplasms.
Familial Melanoma 897
Johan Hansson
Approximately 5% to 10% of cases of cutaneous melanoma occur in
families that have a hereditary predisposition for this disease. In
20% to 40% of such melanoma families, germline mutations in the
CDKN2A gene have been identified. Apart from a high risk of
melanoma, a proportion of kindreds that have familial melanoma
also have an increased risk of pancreatic carcinoma. Guidelines for
management of familial melanoma and the issue of genetic testing
for CDKN2A germline mutations are discussed.
Index 917
|
| adam_txt |
HEKEPIFARY CANCfcR SYNDROMES ., „', i
CONTENTS
Foreword xi
Ronald F. Martin
Preface xiii
Ismail Jatoi
Cancer Genetics: A Primer for Surgeons 681
John R. Benson and Siong-Seng Liau
Contemporary ideas of carcinogenesis envisage a series of
stochastic genetic changes that confer a selective growth advantage
over healthy cells. These changes collectively lead to the disruption
of coordinated networks of intercellular communication and cause
a fundamental change in cellular behavior, which affects processes,
such as proliferation, differentiation, and apoptosis. This progres¬
sive dysregulation of cellular function implies that cancer is not a
morphologic entity, but a process in which the malignant
phenotype is gradually acquired.
Genetic Testing for Cancer Susceptibility 705
Kathleen A. Calzone and Peter W. Soballe
Genetic testing for mutations in genes associated with an inherited
predisposition to cancer is rapidly moving outside specialty genetic
services and into mainstream health care. Surgeons, as front-line
providers of cancer care, are uniquely positioned to identify those
who may benefit from generic testing and institute changes to their
health care management based on those results. This article
provides an overview of the critical elements of the process of
genetic testing for cancer susceptibility.
VOLUME 88 • NUMBER 4 • AUGUST 2008 V
The Genetic Information Nondiscrimination Act: Why Your
Personal Genetics are Still Vulnerable to Discrimination 723
Louise M. Slaughter
Genetic research offers great potential for early treatment and the
prevention of numerous diseases. As technology continues to
advance, ethical, legal, and social challenges continue to present
themselves. The Genetic Information Nondiscrimination Act
(GINA) looks to protect an individual's genetic information from
employer and insurance discrimination while encouraging Amer¬
icans to take advantage of genetic testing to prevent and prepare
for potential diseases. GINA will do more than stamp out a new
form of discrimination: it will help the United States be a leader in
a field of scientific research that holds as much promise as any
other in history.
An Overview of the Role of Prophylactic Surgery in the
Management of Individuals with a Hereditary Cancer
Predisposition 739
Tawakalitu Oseni and Ismail Jatoi
Genetic testing for cancer susceptibility has been implemented
widely in recent years, with the hope that it eventually will lead to
a reduction in cancer-related mortality. Asymptomatic individuals
who have a genetic predisposition for cancer can be identified, and
many may benefit from early intervention. Not all of these
individuals will develop cancer, however, and the penetrance
varies among individuals with different mutations. Surveillance,
chemoprevention, and prophylactic surgery are accepted options
for managing individuals who have a genetic predisposition for
cancer. Yet, there are no randomized prospective trials that have
assessed the impact of these interventions specifically in mutation
carriers. The decision to undergo prophylactic surgery therefore
should be made after all other management options are considered,
and the patient is informed of the potential risks and benefits of
surgery. This article provides an overview of the role of
prophylactic surgery for managing patients who have a genetic
predisposition for cancer. It specifically discusses the potential role
of surgery in preventing breast, colon, thyroid, and gastric cancers.
Additionally, it discusses the types of prophylactic surgical
procedures that are performed commonly, and their expanding
role in cancer prevention.
Hereditary Diffuse Gastric Cancer: Prophylactic Surgical
Oncology Implications 759
Henry T. Lynch, Edibaldo Silva, Debrah Wirtzfeld,
Pamela Hebbard, Jane Lynch, and David G. Huntsman
Hereditary diffuse gastric cancer (HDGC) is an autosomal
dominantly inherited syndrome attributed to mutations of the E-
cadherin gene, CDH1. There is no proven effective screening for
vj CONTENTS
early HDGC, and symptomatic disease is almost universally fatal.
The only available effective option for CDH1 carriers is prophy¬
lactic total gastrectomy, but the variable age of onset of HDGC and
the reduced penetrance (about 70%) of the CDHI gene further
complicate patients' decision making.
Hamartomatous Polyposis Syndromes 779
Daniel Calva and James R. Howe
Since the histologic description of the hamartomatous polyp in
1957 by Horrilleno and colleagues, descriptions have appeared of
several different syndromes with the propensity to develop these
polyps in the upper and lower gastrointestinal tracts. These
syndromes include juvenile polyposis, Peutz-Jeghers syndrome,
hereditary mixed polyposis syndrome, and the phosphatase and
tensin homolog gene (PTEN) hamartoma tumor syndromes
(Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are
autosomal-dominantly inherited, and Cronkhite-Canada syn¬
drome, which is acquired. This article reviews the clinical aspects,
the molecular pathogenesis, the affected organ systems, the risks of
cancer, and the management of these hamartomatous polyposis
syndromes. Although the incidence of these syndromes is low, it is
important for clinicians to recognize these disorders to prevent
morbidity and mortality in these patients, and to perform
presymptomatic testing in patients at risk.
Hereditary Colorectal Cancer Syndromes: Familial
Adenomatous Polyposis and Lynch Syndrome 819
Wigdan Al-Sukhni, Melyssa Aronson, and Steven Gallinger
Familial colorectal cancer (CRC) accounts for 10% to 20% of all
cases of CRC. Two major autosomal dominant forms of heritable
CRC are familial adenomatous polyposis (FAP) and Lynch
syndrome (also known as hereditary nonpolyposis colorectal
cancer). Along with the risk for CRC, both syndromes are
associated with elevated risk for other tumors. Improved under¬
standing of the genetic basis of these diseases has not only
facilitated the identification and screening of at-risk individuate
and the development of prophylactic or early-stage intervention
strategies but also provided better insight into sporadic CRC. This
article reviews the clinical and genetic characteristics oi FAP and
Lynch syndrome, recommended screening and surveillance prac¬
tices, and appropriate surgical and nonsurgical interventions.
Management of Women Who Have a Genetic Predisposition
for Breast Cancer 845
Ismail Jatoi and William F. Anderson
The management of women who have a genetic predisposition for
breast cancer requires careful planning. Women who have BRCA 1
CONTENTS vii
and BRCA 2 mutations are at increased risk for breast cancer and
for other cancers as well, particularly ovarian cancer. Screening,
prophlyactic surgery, and chemoprevention are commonly utilized
strategies in the management of these patients, and women may
choose more than one of these strategies. No randomized
prospective trials have assessed the impact of these strategies
specifically in mutaiton carriers. All patients should be informed
that screening, prophylactic surgery, and chemoprevention have
the potential for harm as well as benefit.
Multiple Endocrine Neoplasia Syndromes 863
Glenda G. Callender, Thereasa A. Rich, and Nancy D. Perrier
The multiple endocrine neoplasia (MEN) syndromes are rare
autosomal-dominant conditions that predispose affected individu¬
als to benign and malignant tumors of the pituitary, thyroid,
parathyroids, adrenals, endocrine pancreas, paraganglia, or non-
endocrine organs. The classic MEN syndromes include MEN type
1 and MEN type 2. However, several other hereditary conditions
should also be considered in the category of MEN: von Hippel-
Lindau syndrome, the familial paraganglioma syndromes, Cowden
syndrome, Carney complex, and hyperparathyroidism jaw-tumor
syndrome. In addition, researchers are becoming aware of other
familial endocrine neoplasia syndromes with an unknown genetic
basis that might also fall into the category of MEN. This article
reviews the clinical features, diagnosis, and surgical management
of the various MEN syndromes and genetic risk assessment for
patients presenting with one or more endocrine neoplasms.
Familial Melanoma 897
Johan Hansson
Approximately 5% to 10% of cases of cutaneous melanoma occur in
families that have a hereditary predisposition for this disease. In
20% to 40% of such melanoma families, germline mutations in the
CDKN2A gene have been identified. Apart from a high risk of
melanoma, a proportion of kindreds that have familial melanoma
also have an increased risk of pancreatic carcinoma. Guidelines for
management of familial melanoma and the issue of genetic testing
for CDKN2A germline mutations are discussed.
Index 917 |
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| illustrated | Illustrated |
| index_date | 2024-07-02T22:00:08Z |
| indexdate | 2024-07-09T21:21:17Z |
| institution | BVB |
| isbn | 1416063560 9781416063568 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-016728279 |
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| physical | XIII S., S. 681 - 925 Ill. 24 cm |
| publishDate | 2008 |
| publishDateSearch | 2008 |
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| publisher | Saunders |
| record_format | marc |
| series | Surgical clinics of North America |
| series2 | Surgical clinics of North America |
| spelling | Hereditary cancer syndromes guest ed. Ismail Jatoi Philadelphia [u.a.] Saunders 2008 XIII S., S. 681 - 925 Ill. 24 cm txt rdacontent n rdamedia nc rdacarrier Surgical clinics of North America 88,4 Cancer / Susceptibility Cancer / Genetic aspects Cancer Genetic aspects Cancer Susceptibility Jatoi, Ismail 1955- Sonstige (DE-588)115631909 oth Surgical clinics of North America 88,4 (DE-604)BV000003239 88,4 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016728279&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Hereditary cancer syndromes Surgical clinics of North America Cancer / Susceptibility Cancer / Genetic aspects Cancer Genetic aspects Cancer Susceptibility |
| title | Hereditary cancer syndromes |
| title_auth | Hereditary cancer syndromes |
| title_exact_search | Hereditary cancer syndromes |
| title_exact_search_txtP | Hereditary cancer syndromes |
| title_full | Hereditary cancer syndromes guest ed. Ismail Jatoi |
| title_fullStr | Hereditary cancer syndromes guest ed. Ismail Jatoi |
| title_full_unstemmed | Hereditary cancer syndromes guest ed. Ismail Jatoi |
| title_short | Hereditary cancer syndromes |
| title_sort | hereditary cancer syndromes |
| topic | Cancer / Susceptibility Cancer / Genetic aspects Cancer Genetic aspects Cancer Susceptibility |
| topic_facet | Cancer / Susceptibility Cancer / Genetic aspects Cancer Genetic aspects Cancer Susceptibility |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016728279&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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