Familial Breast Cancer: Causes, Symptoms, Statistics, Treatments, Prevention & Future

This article discusses familial breast cancer, which is a group of breast cancer within a family. It covers the causes, symptoms, statistics, treatments, prevention, and future of the disease. The article also provides a bibliography of relevant sources.

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Familial Breast Cancer
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Contents
Familial breast cancer..................................................................................................................................2
Causes.........................................................................................................................................................2
Symptoms....................................................................................................................................................2
Statistics & Prognosis..................................................................................................................................2
Treatments / Therapies................................................................................................................................3
Prevention & the Future..............................................................................................................................3
Bibliography................................................................................................................................................5

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Familial breast cancer
Breast cancer is a multifactorial disease which involves a communication between
environmental, lifestyle, hormonal and genetic factors. Familial breast cancer is a group of breast
cancer within a family.
Causes
Many cases of breast cancer takes place sporadically. They take place because of the sudden
changes in the breast cells. Such mutations are known as somatic mutation and they are not
generally passed to future generations. Nearly, 15-20% of females who are diagnosed with breast
cancer have prime family history of such disease. It often happens that two or more than first
degree or second degree relatives suffer from breast cancer. However, they do not any similar
mutation in a gene known to cause a hereditary predisposition. The cluster in the breast generally
appears due to the grouping of gene and other many factors like environment and lifestyle. A
supplementary 5-10% of such cancer is hereditary i.e. it is passed via family members us an
autosomal dominant way. In few cases, the genetic cause is unaware but many of such cases are
portion of a genetic cancer syndrome1 (Lalloo and Evans, 2012).
Symptoms
Breast cancer majorly do not always have basic symptoms because teenaged females can also
have such disease. But when signs takes place, a lump or a mass in the area is seen. Other
possible symptoms are also given below:
 nipple discharge or redness,
 changes in the skin such as puckering or dimpling,
 And swelling of part of the breast.
Statistics & Prognosis
1 Lalloo and Evans, D.G., 2012. Familial breast cancer. Clinical genetics, 82(2), pp.105-114.

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Mammography is highly recommended screening tool used to detect breast cancer. The
government of Australia has invited females between 50-74 years of age to examine the tool and
it was free of cost. Apart from this, Cancer council Australia conducts many programs that helps
the females to be aware of the risk involved in it2.
Apart from this, one can prevent such disease by being physically and mentally active, avoiding
alcohol, avoiding smoking, avoid taking birth control pills after one reach at the age of 35 and
avoid Post-Menopausal Hormones.
The American Cancer Society showed that 5year survival rate after diagnosis for people with 4th
stage breast cancer is 22%. The percentage is low in the earlier stages. At stage 3, it is 72% and
at stage 2, it is over 90%3.
Treatments / Therapies
Familial breast cancer is generally caused because of the heredity issues. The treatment need to
recover it are:
 Breast awareness and self-exams.
 Mammogram and breast MRI
 Chemoprevention and prophylactic surgeries.
 ER, PR expression
 HER2 over expression
 HER2 amplification
 Somatic Mutation Testing
2 Michailidou et al, 2013. Large-scale genotyping identifies 41 new loci associated with breast
cancer risk. Nature genetics, 45(4), p.353.
3 Tutt, et al., 2010. Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with
BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. The Lancet,
376(9737), pp.235-244.

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 Germ Line Testing
For female with stage 2 breast cancer, the 5 year relative survival rate is nearly 93%. Similarly,
the 5year relative survival rate for stage 3 breast cancers is 72%. But it is said that females with
such cancers are treated successfully4.
Prevention & the Future
There is no such way to prevent breast cancer. However, it can be reduced by increasing exercise
and maintaining the body weight. Similarly, following the American Cancer Society's guidelines
can also help to treat such disease. Genetic testing can be conducted and chemoprevention must
be taken to reduce the risk of cancer.
Apart from this, tamoxifen and raloxifene are the drugs used for chemoprevention. Aromatase
inhibitors can also be done which stops the production of tiny estrogen which is generally
produced in postmenopausal females.5
4 Kelly, K.M., Dean, J., Comulada, W.S. and Lee, S.J., 2010. Breast cancer detection using
automated whole breast ultrasound and mammography in radiographically dense breasts.
European radiology, 20(3), pp.734-742.
5 Eitan, A., Freedman, O.C., Seruga, B. and Evans, D.G., 2010. Assessing women at high risk of
breast cancer: a review of risk assessment models. JNCI: Journal of the National Cancer
Institute, 102(10), pp.680-691.

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Bibliography
Amir, E., Freedman, O.C., Seruga, B. and Evans, D.G., 2010. Assessing women at high risk of
breast cancer: a review of risk assessment models. JNCI: Journal of the National Cancer
Institute, 102(10), pp.680-691.
Kelly, Dean, J., Comulada, W.S. and Lee, S.J., 2010. Breast cancer detection using automated
whole breast ultrasound and mammography in radiographically dense breasts. European
radiology, 20(3), pp.734-742.
Lalloo and Evans, D.G., 2012. Familial breast cancer. Clinical genetics, 82(2), pp.105-114.
Michailidou, Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt,
M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K. and Wang, Q., 2013. Large-scale
genotyping identifies 41 new loci associated with breast cancer risk. Nature genetics, 45(4),
p.353.
Tutt, Robson, M., Garber, J.E., Domchek, S.M., Audeh, M.W., Weitzel, J.N., Friedlander, M.,
Arun, B., Loman, N., Schmutzler, R.K. and Wardley, A., 2010. Oral poly (ADP-ribose)
polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast
cancer: a proof-of-concept trial. The Lancet, 376(9737), pp.235-244.