The Most Frequent Inherited Breast Cancer Syndromes

#Arrangoiz #BreastCancer #BreastSurgeon #CancerSurgeon #SurgicalOncologist

Risk Factors for the Development of Breast Cancer

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  • Factors associated with the highest risk for the development of breast cancer (relative risk [RR] > 4.0) are as follows:
    • Advanced age:
      • 65 years and older
    • Atypical hyperplasia of breast:
      • Biopsy proven
    • Certain inherited genetic mutations:
      • BRCA1, BRCA2, TP53, ATM, CDH1:
        • RR between 4 and 8
    • Ductal or lobular carcinoma in situ (DCIS / LCIS):
      • RR between 8 and 10
    • Family history of early ovarian cancer:
      • Age less than 50 years
    • Multiple first-degree relatives with breast cancer
    • Ionizing radiation exposure before age 30:
      • RR between 22 and 40
    • Personal history of early breast cancer:
      • Age less than 40

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  • Factors associated with RR 2.1-4.0 for breast cancer are as follows:
    • High endogenousestrogen or testosterone level:
      • Postmenopausal
    • First full-term pregnancy:
      • After age 35 years
    • Very dense breasts:
      • Greater than 50%:
        • Compared with 11% to 25% mammographically
    • One first-degree relative with breast cancer
    • Proliferative breast diseases:
      • Atypical ductal hyperplasia
    • Certain inherited genetic mutations:
      • CHEK2
      • PTEN

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  • Factors associated with RR 1.1-2.0 for breast cancer are as follows:
    • Alcohol consumption
    • Age 30 to 35 at first full-term pregnancy
    • Diethylstilbestrol exposure in utero
    • Early menarche:
      • Age less than 12 years
    • Height:
      • Greater than 5 feet 3 inches (160 cm)
    • High socioeconomic class
    • Ashkenazi Jewish heritage
    • Personal history of breast cancer:
      • Age of onset greater than 40
    • Dense breasts:
      • 25% to 50%:
        • Compared with 11% to 25% mammographically
    • Benign breast conditions:
      • Non-atypical ductal hyperplasia
      • Fibroadenoma
      • Sclerosing adenosis
      • Microglandular adenosis
      • Papillomatosis
      • Radial scar
    • Never breastfed a child
    • Nulliparity:
      • No full-term pregnancies
    • Late menopause:
      • Age greater than 55
    • Type II diabetes mellitus
    • Obesity:
      • Post-menopausal
    • Personal history of:
      • Uterine cancer
      • Ovarian cancer
      • Colon cancer
    • Recent and long-term use of hormone replacement therapy (HRT):
      • Containing estrogen and progestin
    • Recent oral contraceptive use
    • Occupation:
      • Night shift
    • Tobacco abuse
    • Sedentary lifestyle
    • Inferior cardiovascular health
    • High bone mineral density

Schematic-diagram-of-risk-factors-and-preventions-of-breast-cancer-Age-family-history

  • Factors that reduce risk of breast cancer (RR < 1) include the following:
    • Asian, Hispanic, or Pacific islander race
    • Breastfeeding
    • Age less than 20 at first pregnancy
    • Tamoxifen use
    • Prior risk-reduction breast surgery
    • History of cervical cancer
    • History of oophorectomy
    • Exercise / active lifestyle
    • Low bone mineral density

Breast-Cancer-Risk-Factors-from-Gross-RE-2000-Breast-cancer-risk-factors

  • Rodrigo Arrangoiz MS, MD, FACS cirujano oncology y cirujano de mamá de Sociedad Quirúrgica S.C en el America British Cowdray Medical Center en la ciudad de Mexico:
    • Es experto en el manejo del cáncer de mama.

👉Es miembro de la American Society of Breast Surgeons:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

#Arrangoiz

#Surgeon

#Cirujano

#SurgicalOncologist

#CirujanoOncologo

#BreastSurgeon

#CirujanodeMama

#CancerSurgeon

#CirujanodeCancer

Epidemiology of Breast Cancer

  • Breast cancer is the most common type of cancer diagnosed in women:
    • Comprising 30% of all women’s cancer diagnoses in the United States:
      • The American Cancer Society estimates that:
        • 268,600 new cases of breast cancer will be diagnosed in women in 2019:
          • Along with about 2670 cases in men:
            • In addition 48,100 cases of DCIS will be diagnosed among women

        • After lung cancer:
          • Breast cancer is the second leading cause of cancer-related death in women:
            • Accounting for 15% of cancer-related deaths:
              • Approximately 41,760 women and 500 men:
                • Are expected to die from breast cancer in 2019

img_3761

  • The incidence of breast cancer has consistently outpaced the incidence of all other cancers (excluding indolent cutaneous malignancies) in women in the US:
    • As of 2015:
      • The incidence rate of female breast cancer in the US was:
        • 124.8 per 100,000 population
    • Of note, the incidence of invasive breast cancers decreased between 1999 and 2004:
      • Which coincides with and is possibly attributable to:
        • Better adherence to recommended screening mammography for the general population of women
        • As well as decreasing use of menopausal hormone replacement therapy (HRT)

img_3768

  • Worldwide:
    • Breast cancer is the leading cause of cancer death in women

img_3814

  • Although the United States and Western Europe have a five-fold higher number of new cases of breast cancer compared with Africa and Asia:
    • Since 1990:
      • The death rate of breast cancer has declined by 24% in the United States (as well as other countries in Western Europe):
        • This may be due to:
          • Increased use of screening mammography
          • Much better adjuvant chemotherapy therapy

 

  • Given the high incidence and mortality of breast cancer:
    • Defining the risk factors for breast cancer has significant clinical value:
      • Physicians can use this information to work with patients to minimize modifiable factors, and to determine appropriate screening procedures

 

  • Rodrigo Arrangoiz MS, MD, FACS cirujano oncology y cirujano de mamá de Sociedad Quirúrgica S.C en el America British Cowdray Medical Center en la ciudad de Mexico:
    • Es experto en el manejo del cáncer de mama.

👉Es miembro de la American Society of Breast Surgeons:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

#Arrangoiz

#Surgeon

#Cirujano

#SurgicalOncologist

#CirujanoOncologo

#BreastSurgeon

#CirujanodeMama

#CancerSurgeon

#CirujanodeCancer

CDH1 Mutation and Breast Cancer

👉A BRCA gene mutation is the most commonly identified clinically actionable result of any gene test.

👉A family history of a combination of early-onset gastric cancer and infiltrating lobular carcinoma of the breast should raise concern for hereditary diffuse gastric cancer syndrome.

👉This syndrome is caused by a mutation in the CDH1 (E-cadherin) gene.

👉Lifetime risk for signet cell diffuse gastric cancer is estimated at 70% and infiltrating lobular carcinoma at 40%.

👉Prophylactic gastrectomy is recommended for CDH1 mutation carriers with a family history of diffuse gastric cancer.

👉CDH1-mutated families with multiple (and often bilateral) infiltrating lobular cancers, but no gastric cancers, are increasingly recognized.

👉Enhanced surveillance with breast magnetic resonance imaging is recommended for women with CDH1 mutations.

REFERENCES

  1. Corso G, Figueiredo J, Biffi R, et al. E-cadherin germline mutation carriers: clinical management and genetic implications. Cancer Metastasis Rev. 2014;33:1081-1094.
  2. Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32:2001-2009.
  3. Daly M, Pilarski R, Axilbund, et al. Genetic/familial high-risk assessment: breast and ovarian, version 2.2015. J Natl Compr Canc Netw. 2016;14:153-162.
  4. Petridis C, Shinomiya I, Kohut K, et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014;110:1053-1057.
  5. Pharoah PD, Guilford P, Caldas C, et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348-1353.
  6. Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121:25-33.

#Arrangoiz #BreastCancer #BreastSurgeon #CancerSurgeon

Cowden Syndrome and Breast Cancer Risk

👉Cowden syndrome is caused by mutation in the PTEN gene.

👉It is one of the few breast cancer predisposition syndromes with a clinically recognizable phenotype. (Peutz-Jeghers syndrome is another.)

👉Clinical features include extreme macrocephaly (head circumference >60 cm), multiple facial tricholemmomas (small skin-colored papules) and a family history of thyroid cancer before age 20 years or endometrial cancer before age 30 years.

Tricholemmomas (small skin colored papeles)
Macrocephaly

👉It is a very rare syndrome, with only six cases identified among 2079 recently reported multigene panel tests.

👉It is clinically important, however, because the lifetime breast cancer risk may be as high as 85% and affected individuals have a very high risk of endometrial and thyroid cancer as well as a moderately increased risk of colorectal cancer and melanoma.

👉Current American Cancer Society guidelines support enhanced surveillance with annual mammogram and magnetic resonance imaging for women with PTEN mutations, though the timing of when this should begin is vague.

👉Data by Riegert-Johnson et al. suggest screening should commence around age 35 years as this is the time that the risk of breast cancer starts to increase.

👉Even after a cancer diagnosis, individuals with Cowden syndrome remain at increased risk of a variety of second primary cancers, especially breast, thyroid, and endometrial.

REFERENCES

  1. LaDuca H, Stuenkel AJ, Dolinsky JS, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014;16:830-837.
  2. Ngeow J, Stanuch K, Mester JL, et al. Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. J Clin Oncol. 2014;32:1818-1824.
  3. Riegert-Johnson DL, Gleeson FC, Roberts M, et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010;8:6.
  4. Tan MH, Mester JL, Ngeow J, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18:400-407.

#Arrangoiz #BreastSurgeon

Peutz-Jeghers Syndrome and Breast Cancer Risk

  • Peutz-Jeghers syndrome is a clinical diagnosis and most patients with the syndrome rarely undergo genetic testing:
    • Instead they are managed clinically
  • Affected individuals are recognized by:
    • Pigmented mucocutaneous lesions

1.6.1.item
Clinical diagnosis of Peutz-Jeghers syndrome based on mucocutaneous pigmentation (freckles) apparent on lips.

    • Hamartomatous gastrointestinal polyps
  • STK11 mutations are very rare in hereditary breast cancer families:
    • But de novo mutations can occur:
      • So some patients with Peutz-Jeghers syndrome will have no family history of breast cancer
      • Lifetime cancer risk is estimated at 67% to 85%:
        • With the greatest risk attributable to:
          • Gastrointestinal cancer
          • Pancreatic cancer
      • Lifetime breast cancer risk is estimated at 24% to 32%:
        • Which meets enhanced surveillance guidelines:
          • Breast self-examination:
            • Begin at 18 years of age:
              • Once a month
          • Clinical breast exam:
            • Begin at 18 years of age:
              • Every six months once the diagnosis is made
          • Breast MRI of digital mammography:
            • Begin at 25 years of age:
              • Once a year
    • STK11 is part of a protein complex that senses energy levels in the cell:
      • Enforcing quiescence when energy is scarce:
        • It is not involved in DNA double strand break repair

👉Rodrigo Arrangoiz MS, MD, FACS cirujano oncology y cirujano de mamá de Sociedad Quirúrgica S.C en el America British Cowdray Medical Center en la ciudad de Mexico:

  • Es experto en el manejo del cáncer de mama.

👉Es miembro de la American Society of Breast Surgeons:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

#Arrangoiz

#Surgeon

#Cirujano

#SurgicalOncologist

#CirujanoOncologo

#BreastSurgeon

#CirujanodeMama

#CancerSurgeon

#CirujanodeCancer

¿Quien Debe Realizar Cirugía de Tiroides?

  • El entrenamiento y el volumen del cirujano son factores críticos para obtener el mejor resultado con las menores complicaciones en la cirugía de tiroides.
  •  
Presentation1
  • Ashok Shaha MD, FACS cirujano de cabeza y cuello de Memorial Sloan Kettering Cancer Center experto en tiroides durante su plática inaugural de la American Head and Neck Society nos habla de quien debe estar realizando cirugía de tiroides.

  https://www.youtube.com/watch?v=dVHc6HZdn70

👉Rodrigo Arrangoiz MS, MD, FACS cirujano de tumores de cabeza y cuello / cirujanos de tiroides y cirugía endocrina de Sociedad Quirúrgica S.C. cumple con los requisitos determinados por el Dr. Saha para realizar cirugía de tiroides.

Su entrenamiento fue el siguiente:

• Cirugia general y gastrointestinal: • Michigan State University: • 2004 al 2010image-48• Cirugia oncológica / tumores de cabeza y cuello / cirugia endocrina: • Fox Chase Cancer Center (Filadelfia): • 2010 al 2012image-39• Maestria en ciencias (Clinical research for healthprofessionals): • Drexel University (Filadelfia): • 2010 al 2012image-50• Cirugia de tumores de cabeza y cuello / cirugiaendocrina • IFHNOS / Memorial Sloan Kettering Cancer Center: • 2014 al 2016image-51

http://www.sociedadquirurgica.comhttp://www.hiperparatiroidismo.info

http://www.cirugiatiroides.com

#Arrangoiz#CirugiadeTumoresdeCabezayCuello#CirugiaEndocrina#CirugiaOncologica#HeadandNeckSurgery#EndocrineSurgery

Breast Density on Mammograms

  • According to the 5th edition of the ACR BI-RADS® Atlas, visual estimation of breast fibroglandular composition should be defined by one of the following four descriptions:
    • Almost entirely fatty
    • Scattered areas of fibroglandular density
    • Heterogeneously dense
    • Extremely dense

 

👉The U.S. population distribution of breast density is as follows:

  • 10% almost entirely fatty
  • 40% scattered areas of fibroglandular density
  • 40% heterogeneously dense
  • 10% extremely dense

👉Women with heterogeneously dense or extremely dense breasts are considered to have “dense breasts.”

👉Sensitivity of mammography decreases as breast density increases.

👉Increased breast density not only has a masking effect which may obscure masses, but also serves as an independent risk factor for breast cancer.

👉It has been reported that the increased risk may be as much as 4- to 6-fold.

👉Estimates this high are obtained when comparing women with dense breasts to those with fatty replaced breasts.

👉Since only 10% of women have fatty replaced breasts, it makes more sense to make the comparison with women of average breast density.

👉The relative risk for cancer in women with heterogeneously dense breasts compared with the average woman is approximately 1.2, and the relative risk for cancer in women with extremely dense breasts compared with the average woman is approximately 2.1.

👉In general, breast density decreases with increasing age and increasing body mass index, so it is not the absolute density that is a risk factor, but the difference in the observed and expected density—the so called “residual density.”

👉Several states have recently passed legislation requiring women with dense breasts to be specifically informed of their breast density.

👉Women are informed of the limitations of mammography in dense breasts and are instructed to discuss further management with their physicians.

👉An informed decision regarding potential use of supplemental screening options, in addition to mammography, should be discussed, factoring in elements such as overall breast cancer risk as well as the positives and negatives of additional screening.

👉Despite a lack of consensus, algorithms for screening women with dense breasts are available and often emphasize breast cancer risk.

👉Women with heterogeneously dense breasts (or extremely dense breasts) with no additional risk factors require only annual mammography.

👉The decision to pursue additional imaging in patients with elevated risk should supplement but never entirely replace mammography.

👉Biannual screening mammography is not considered appropriate, and there is no indication for thermography.

👉Use of screening ultrasound or MRI are appropriate for women at increased risk, but the benefit remains to be determined in women of average risk for breast cancer.

👉Rodrigo Arrangoiz MS, MD, FACS cirujano oncology y cirujano de mamá de Sociedad Quirúrgica S.C en el America British Cowdray Medical Center en la ciudad de Mexico:

  • Es experto en el manejo del cáncer de mama.

👉Es miembro de la American Society of Breast Surgeons:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

#Arrangoiz

#Surgeon

#Cirujano

#SurgicalOncologist

#CirujanoOncologo

#BreastSurgeon

#CirujanodeMama

#CancerSurgeon

#CirujanodeCancer

 

 

Port-a-Cath

👉A portacath or “port” provides intravenous access to a large vein in the body to deliver chemotherapy, blood products, antibiotics, and IV fluids.

👉Large veins are better for rapid infusion of high volumes or because some drugs, like cancer chemotherapies, can cause severe irritation if delivered to the smaller veins of the arms or legs or could lead to a chemical burn if they were to leak into surrounding tissues.

👉The portal refers to a reservoir implanted under the skin, usually in the upper chest below the collarbone.

👉To access the port, a narrow needle with is inserted into the port where the bump is, either with or without numbing the skin beforehand.

👉Click bio link for complete patient information about portacaths! https://ja.ma/32a0LfK

#Arrangoiz #Teacher #CancerSurgeon #Cancer #FightCancer #SurgicalOncologist